1번 염색체

1번 염색체는 인간에서 가장 큰 염색체이다. 인간은 이질염색체가 아닌 모든 상염색체와 마찬가지로 1번 염색체에 두 개의 사본을 가지고 있다. 1번 염색체는 DNA 정보의 기본 단위인 약 2억 4,900만 뉴클레오타이드 염기쌍에 걸쳐 있다. 그것은 인간 세포에 있는 전체 DNA의 약 8%를 차지한다. 상염색체, 성염색체를 포함한 인간의 염색체 중에서 길이가 제일 길다. 1번 염색체의 단완의 일부가 결실되면 해당 부위의 유전자의 일부가 없어지는 유전병이 발생하는데 이를 1번 단완 염색체 결실 증후군이라고 한다. 해당 병에 걸리면 안면에 기형이 발생하며 발달장애, 운동장애 등을 동반하는 경우가 많다. 인종, 성별과 무관하게 1/5000에서 1/10000 정도의 확률로 발생한다. 인간 유전체 프로젝트가 시작된 지 20년 후에 시퀀싱된 마지막 완성된 염색체였다. 다음은 인간 1번 염색체의 유전자 수 추정치 중 일부이다. 연구자들은 게놈 주석에 다른 접근 방식을 사용하기 때문에 각 염색체의 유전자 수에 대한 예측은 다양하다 (기술적인 세부 사항은 유전자 예측 참조). 다양한 프로젝트 중 CCDS (Collaborative Consensus coding sequence project)는 매우 보수적인 전략을 취한다. 따라서 CCDS의 유전자 수 예측은 인간 단백질 암호화 유전자의 총 수에 대한 하한을 나타낸다. 다음은 인간 1번 염색체에 있는 유전자의 일부 목록이다. 전체 목록은 오른쪽 정보 상자의 링크를 참조하라. C1orf112 : 암호화 단백질 염색체 1 오픈 리딩 프레임 112 C1orf127 : 암호화 단백질 염색체 1 오픈 리딩 프레임 127 C1orf27 : 암호화 단백질 염색체 1 오픈 리딩 프레임 27 C1orf38 : 암호화 단백질 염색체 1 오픈 리딩 프레임 38 CCDC181 : 암호화 단백질 코일된 코일 도메인 함유 단백질 181 DENN1B : 천식과 관련이 있다고 가정됨 FHAD1 : 단백질 1을 포함하는 단백질 포크헤드 관련 도메인 암호화 LOC100132287 : 확실하지 않은 단백질 LRRIQ3 : 암호화 단백질 류신이 풍부한 반복 및 3을 포함하는 IQ 모티브 Shisa family member 4 : 암호화 단백질 시사 패밀리 구성원 4 TINAGL1 : 항원 유사 세뇨관간질성 신염을 암호화하는 단백질 인간 1번 염색체의 p-arm (short arm)에 위치한 유전자의 일부 목록이다. AADACL3: Arylacetamide deacetylase-like 3 AADACL4: Arylacetamide deacetylase-like 4 ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ACTG1P6: encoding protein Actin, gamma 1 pseudogene 6 ACTL8: Actin-like 8 ADGRL2 (1p31.1): adhesion G protein-coupled receptor L2 ADPRHL2: Poly(ADP-ribose) glycohydrolase ARH3 AMPD2: encoding enzyme AMP deaminase 2 ARID1A (1p36) ATXN7L2: Ataxin 7-like 2 AZIN2: encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC) BCAS2: Breast carcinoma amplified sequence 2 BCL10 (1p22) BCL2L15 (1p13) LRIF1: encoding protein Ligand-dependent nuclear receptor-interacting factor 1 C1orf109: chromosome 1 open reading frame 109 CZIB: chromosome 1 open reading frame 123 CACHD1 encoding protein Cache domain containing 1 CAMTA1 (1p36) CASP9 (1p36) CASZ1 (1p36): Castor zinc finger 1 CSDE1: Cold shock domain containing E1 CHD5 (1p36) CLIC4 (1p36) CLSPN (1p34) CMPK: UMP-CMP kinase COL16A1 (1p35) COL11A1: collagen, type XI, alpha 1 CPT2: carnitine palmitoyltransferase II CRYZ: Crystallin zeta CYP4B1 (1p33) CYR61 (1p22) DBT: dihydrolipoamide branched chain transacylase E2 DCLRE1B: DNA cross-link repair 1B DEPDC1 encoding protein DEP domain containing 1 DIRAS3 (1p31): DIRAS family, GTP-binding RAS-like 3 DPH5: Diphthine synthase DVL1 (1p36) ENO1 (1p36) EPHA2 (1p36) EPS15 (1p32) ESPN: espin (autosomal recessive deafness 36) EVI5: ecotropic viral integration site 5 EXTL1: exostosin like glycosyltransferase 1 EXTL2: exostosin like glycosyltransferase 2 FAM46B: family with sequence similarity 46, member B FAM46C: family with sequence similarity 46, member C FAM76A: family with sequence similarity 76, member A FBXO2: F-box protein 2 FNBP1L encoding protein Formin-binding protein 1-like FPGT: Fucose-1-phosphate guanylyltransferase FUBP1 (1p31) GALE: UDP-galactose-4-epimerase GADD45A (1p31) GBP1 (1p22) GBP2: guanylate binding protein 2 GBP5 encoding protein Guanylate binding protein 5 GJB3: gap junction protein, beta 3, 31kDa (connexin 31) GLMN (1p22) GNL2: G protein nucleolar 2 GSTM1 (1p13) HDAC1 (1p35) HES2: Hes family bHLH transcription factor 2 HES3: Hes family bHLH transcription factor 3 HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) HAO2 encoding protein Hydroxyacid oxidase 2 HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2 HP1BP3: Heterochromatin protein 1, binding protein 3 IFI6: Interferon alpha-inducible protein 6 IL22RA1 (1p36) INTS11: Integrator complex subunit 11 JAK1 (1p31) JUN (1p32) KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4 KIF1B: kinesin family member 1B L1TD1: LINE-1 type transposase domain containing 1 LCK (1p35) LINC01137: encoding protein Long intergenic non-protein coding RNA 1137 LRRC39: Leucine-rich repeat-containing protein 39 LRRC40: Leucine-rich repeat-containing protein 40 LRRC41: Leucine-rich repeat-containing protein 41 LRRC8D: Leucine-rich repeat-containing protein 8D MAN1A2: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB MEAF6: MYST/ESA1 associated factor 6 MECR: Trans-2-enoyl-CoA reductase, mitochondrial MFAP2: Microfibrillar-associated protein 2 MIB2 (1p36) MIER1 (1p31) MFN2: mitofusin 2 MFSD2: Major facilitator superfamily domain containing 2A MIR6079: microRNA 6079 MMEL1: Membrane metallo-endopeptidase-like 1 MTFR1L: mitochondrial fission regulator 1 like MTHFR (1p36): 5,10-methylenetetrahydrofolate reductase (NADPH) MUL1: Mitochondrial E3 ubiquitin protein ligase 1 MUTYH (1p34): mutY homolog (E. coli) NBPF3: Neuroblastoma breakpoint family member 3 NDUFA4P1: encoding protein Nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kda, pseudogene 1 NGF: Nerve Growth Factor NOL9: Nucleolar protein 9 NRAS (1p13) NOTCH2 (1p12) OLFML3: Olfactomedin-like 3 OMA1: Metalloendopeptidase OMA1, mitochondrial OVGP1: Oviductal glycoprotein 1 PARK7 (1p36): Parkinson disease (autosomal recessive, early onset) 7 PINK1: PTEN induced putative kinase 1 PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 PRMT6: Protein arginine methyltransferase 6 PSRC1: Proline/serine-rich coiled-coil protein 1 RAD54L: RAD54-like RAP1A (1p13) RBM15 (1p13) RCC2: Regulator of chromosome condensation 2 REG4 (1p12) RHBDL2: Rhomboid like 2 RHOC (1p13) RLF: rearranged L-myc fusion RNF11 (1p32) RNF220: RING finger protein 220 RPA2 (1p35) RSPO1 (1p34) S100A1 (1q21) SAMD11: encoding protein Sterile alpha motif domain containing 11 SDC3: Syndecan-3 SDHB (1p36) SFPQ (1p34) SGIP1: SH3 domain GRB2-like protein 3-interaction protein 1 SH3BGRL3: SH3 domain-binding glutamic acid-rich-like protein 3 SLC16A1 (1p13) SPSB1: SPRY domain-containing SOCS box protein 1 STIL (1p33) SYCP1: Synaptonemal complex protein 1 SZT2: Seizure threshold 2 homolog TACSTD2: tumor-associated calcium signal transducer 2 TAL1 (1p33) TCTEX1D4: encoding protein Tctex1 domain containing 4 TCEB3: Transcription elongation factor B polypeptide 3 TGFBR3 (1p22) THRAP3 (1p34) TIE1 (1p34) TMCO2: encoding protein transmembrane and coiled-coil domains 2 TMCO4: encoding protein transmembrane and coiled-coil domains 4 TMEM48: encoding protein nucleoporin NDC1 TMEM50A: Transmembrane protein 50A TMEM59: Transmembrane protein 59 TMEM69: Transmembrane protein 69 TMEM201 encoding protein Transmembrane protein 201 TMEM222: Transmembrane protein 222 TOE1: Target of EGR1 protein 1 TRAPPC3: Trafficking protein particle complex subunit 3 TRIT1: tRNA isopentenyltransferase, mitochondrial TSHB: thyroid stimulating hormone, beta TTC39A: Tetratricopeptide repeat 39A UBR4: E3 ubiquitin-protein ligase component n-recognin 4 UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda) USP1 (1p31) USP48: Ubiquitin carboxyl-terminal hydrolase 48 VAV3 (1p13) VPS13D: Vacuolar protein sorting-associated protein 13D VTCN1 (1p13) WARS2: Tryptophanyl-tRNA synthetase, mitochondrial WDR77 (1p13) YBX1 (1p34) ZCCHC17: zinc finger CCHC-type containing 17 ZMYM1 encoding protein Zinc finger MYM-type containing 1 ZNF436: Zinc finger protein 436 ZYG11B encoding protein Zyg-11 family member B, cell cycle regulator ZZZ3: ZZ-type zinc finger-containing protein 3 인간 1번 염색체의 q-arm (long arm)에 있는 유전자의 일부 목록이다. ABL2 (1q25) ADIPOR1 (1q32) AHCTF1: encoding protein ELYS AKT3 (1q43-44) ANGPTL1: Angiopoietin-related protein 1 ARHGEF2 (1q22) ARID4B: encoding protein AT-rich interactive domain-containing protein 4B ARV1 encoding protein ARV1 homolog (S. cerevisiae) ARNT (1q21) ASPM (1q31): a brain size determinant ATF3 (1q32) ATP2B4 (1q32) BCL9 (1q21) CATSPERE: encoding protein Catsper channel auxiliary subunit epsilon C1orf21: chromosome 1 open reading frame 21 MMTAP2 encoding protein Multiple myeloma tumor-associated protein 2 TEX35: TEX35 C1orf74: chromosome 1 open reading frame 74 C2CD4D: C2 calcium-dependent domain-containing 4D CD5L: CD5 molecule like CENPL: Centromere protein L CENPF (1q41) CHTOP: Chromatin target of prmt1 CNIH4: cornichon homolog 4 CNST: Consortin CREG1: Cellular repressor of E1A stimulated genes 1 CRP: C-reactive protein CRTC2 (1q21) CSRP1: Cysteine and glycine rich protein 1 DCAF8: encoding protein DDB1 and CUL4 associated factor 8 DDX59: DEAD-box helicase 59 DEL1Q21: encoding protein Chromosome 1q21.1 deletion syndrome DPT: Dermatopontin DISC2, long non-coding RNA DNAH14 encoding protein Dynein, axonemal, heavy chain 14 DUSP10 (1q41) DUSP27: encoding protein Dual specificity phosphatase 27 (putative) ECM1 (1q21) EDEM3: ER degradation enhancing alpha-mannosidase like protein 3 EGLN1 (1q42) ENAH (1q42) ESRRG (1q41) FAM163A: encoding protein neuroblastoma-derived secretory protein FAM20B: FAM20B, glycosaminoglycan xylosylkinase FAM63A: Family with sequence similarity 63, member A FAM78B: family with sequence similarity 78, member B FAM129A: family with sequence similarity 129, member A FBXO28: F-box protein 28 FCMR: Fc fragment of IgM receptor FCGR2B (1q23) FCGR2C: encoding protein Fc fragment of igg receptor iic (gene/pseudogene) FH (1q43): fumarase FMO3: flavin containing monooxygenase 3 FRA1J encoding protein Fragile site, 5-azacytidine type, common, fra(1)(q12) G0S2: encoding G0/G1 switch 2 GAS5 (1q25) GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease) GBAP1: glucosylceramidase beta pseudogene 1 GLC1A: gene for glaucoma GON4L: gon-4 like GPA33 (1q24) GPR37L1 G protein-coupled receptor 37 like 1 HEATR1: HEAT repeat-containing protein 1 HFE2: hemochromatosis type 2 (juvenile) HIST2H2AB: Histone 2A type 2-B HIST2H2BF: Histone H2B type 2-F HIST2H3PS2: Histone cluster 2, H3, pseudogene 2 HIST3H2A: Histone H2A type 3 HIST3H2BB: Histone H2B type 3-B HPC1: gene for prostate cancer HRM2: Hair, curly IGSF8 (1q23) INAVA: Innate immunity activator protein INTS3: Integrator complex subunit 3 IRF6: gene for connective tissue formation KCNH1 (1q32) KIF14 (1q32) LEFTY1: Left-right determination factor 1 LHX9 encoding protein LIM homeobox 9 LMNA: lamin A/C LOC645166 encoding protein Lymphocyte-specific protein 1 pseudogene LYPLAL1: Lysophospholipase-like 1 MAPKAPK2 (1q32) MIR194-1: microRNA 194-1 MIR5008: microRNA 5008 MPC2: Mitochondrial pyruvate carrier 2 MOSC1: MOCO sulphurase C-terminal domain containing 1 MOSC2: MOSC domain-containing protein 2, mitochondrial MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B) MSTO1: misato 1 MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase NAV1: Neuron navigator 1 NBPF16: Neuroblastoma breakpoint family, member 16 NOC2L: Nucleolar complex protein 2 homolog NUCKS1: Nuclear ubiquitous casein and cyclin-dependent kinases substrate NVL: Nuclear valosin-containing protein-like OLFML2B: Olfactomedin-like 2B OPTC: Opticin OTUD7B: OTU domain-containing protein 7B PACERR encoding protein PTGS2 antisense NFKB1 complex-mediated expression regulator RNA PBX1 (1q23) PEA15 (1q23) PGDB5: PiggyBac transposable element derived 5 PIAS3 (1q21) PI4KB: Phosphatidylinositol 4-kinase beta PIP5K1A (1q21): Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha PLA2G4A (1q31) PPOX: protoporphyrinogen oxidase PRCC (1q23) PRR9 encoding protein Proline rich 9 PSEN2 (1q42): presenilin 2 (Alzheimer disease 4) PTGS2 (1q31) PTPN14 (1q32-41) PTPN7 (1q32) RABIF: RAB interacting factor RASSF5 (1q32) RGS2 (1q31) RN5S1@: RNA, 5S ribosomal 1q42 cluster RPS27 (1q21) SCAMP3: Secretory carrier-associated membrane protein 3 SDHC (1q23) SELE (1q24) SHC1 (1q21) SLC39A1 (1q21) SLC50A1: Solute carrier family 50 member 1 SMCP: Sperm mitochondrial-associated cysteine-rich protein SMG7: nonsense mediated mRNA decay factor SMYD3 (1q44) SPG23 SPRR1A: Cornifin-A SPRR1B: Cornifin-B SPRR2A: Small proline rich protein 2A SPRTN: Spartan TARBP1: TAR (HIV-1) RNA-binding protein 1 TBCE: Tubulin-specific chaperone E THBS3: Thrombospondin 3 TMCO1: Transmembrane and coiled-coil domain-containing protein 1 TMEM9: Transmembrane protein 9 TMEM63A: Transmembrane protein 63A TMEM81: Transmembrane protein 81 TNFAIP8L2: encoding TNF alpha induced protein 8 like 2 TNFSF18 (1q25) TNN (1q25) TNNT2: cardiac troponin T2 TOR1AIP1: Torsin-1A-interacting protein 1 TOR3A: encoding protein Torsin family 3 member A TP53BP2 (1q41) TRE-CTC1-5: Transfer RNA-Glu (CTC) 1-5 TRP (1q31) UAP1: UDP-N-acetylhexosamine pyrophosphorylase USH2A: Usher syndrome 2A (autosomal recessive, mild) USF1 (1q23) VANGL2: encoding protein VANGL planar cell polarity protein 2 VPS45: Vacuolar protein sorting-associated protein 45 VPS72: Vacuolar protein sorting-associated protein 72 YY1AP1: YY1-associated protein 1 ZBED6: zinc finger, BED-type containing 6 ZC3H11A: Zinc finger CCCH domain-containing protein 11A ZNF648 encoding protein Zinc finger protein 648 ZNF669: Zinc finger protein 669 ZNF687: Zinc finger protein 687 ZNF692: Zinc finger protein 692 ZNF695: Zinc finger protein 695 이 염색체와 관련된 알려진 질병은 890가지이다.  이러한 질병 중 일부는 청각 장애, 알츠하이머병, 녹내장 및 유방암이다. 1번 염색체의 재배열 및 돌연변이는 암 및 기타 많은 질병에서 만연하다. 서열 변이의 패턴은 인간의 건강에 기여할 수 있는 특정 유전자의 최근 선택 신호와 기능이 명확하지 않은 영역을 나타낸다. 완전한 일염색체성(전체 염색체의 사본이 하나만 있음)은 출생 전에 항상 치명적이다. 완전한 삼염색체(전체 염색체의 3개 사본 보유)는 수태 후 수일 이내에 치명적이다. 일부 부분 삭제 및 부분 복제는 선천적 장애를 생성한다. 다음 질병은 1번 염색체의 유전자와 관련된 질병 중 일부이다. (인간 염색체 중 가장 잘 알려진 유전성 질환 포함)   1q21.1 deletion syndrome 1q21.1 duplication syndrome Alzheimer's disease Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Breast cancer Brooke Greenberg Disease (Syndrome X) Carnitine palmitoyltransferase II deficiency Charcot–Marie–Tooth disease, types 1 and 2 collagenopathy, types II and XI congenital hypothyroidism Ehlers-Danlos syndrome Factor V Leiden thrombophilia Familial adenomatous polyposis galactosemia Gaucher disease Gaucher-like disease Gelatinous drop-like corneal dystrophy Glaucoma Hearing loss, autosomal recessive deafness 36 Hemochromatosis Hepatoerythropoietic porphyria Homocystinuria Hutchinson Gilford progeria syndrome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death maple syrup urine disease medium-chain acyl-coenzyme A dehydrogenase deficiency Microcephaly Muckle–Wells syndrome Nonsyndromic deafness Oligodendroglioma Parkinson disease Pheochromocytoma porphyria porphyria cutanea tarda popliteal pterygium syndrome prostate cancer Stickler syndrome TAR syndrome trimethylaminuria Usher syndrome Usher syndrome type II Van der Woude syndrome Variegate porphyria G-banding ideograms of human chromosome 1 Tom Strachan; Andrew Read (2010년 4월 2일). 《Human Molecular Genetics》. Garland Science. 45쪽. ISBN 978-1-136-84407-2.  Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11. “The DNA sequence and biological annotation of human chromosome 1”. 《Nature》 441 (7091): 315–21. May 2006. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.  1번 단완 염색체 결실 증후군네이버 지식백과-건강백과 Pertea M, Salzberg SL (2010). “Between a chicken and a grape: estimating the number of human genes.”. 《Genome Biol》 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.  “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2016년 9월 8일. 2017년 5월 28일에 확인함.  “Statistics & Downloads for chromosome 1”. 《HUGO Gene Nomenclature Committee》. 2017년 5월 12일. 2017년 6월 29일에 원본 문서에서 보존된 문서. 2017년 5월 19일에 확인함.  “Chromosome 1: Chromosome summary - Homo sapiens”. 《Ensembl Release 88》. 2017년 3월 29일. 2017년 5월 19일에 확인함.  “Human chromosome 1: entries, gene names and cross-references to MIM”. 《UniProt》. 2018년 2월 28일. 2018년 3월 16일에 확인함.  “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함.  “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함.  “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함.  Gersen, Steven L.; Keagle, Martha B. (2013년 3월 26일). 《The Principles of Clinical Cytogenetics》 (영어). Springer Science & Business Media. 278쪽. ISBN 9781441916884.  Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26. International Standing Committee on Human Cytogenetic Nomenclature (2013). 《ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)》. Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.  Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). “Estimation of band level resolutions of human chromosome images”. 《In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on》: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8.  These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.