Chromosome 1 (human)
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.
It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

# Genes

## Number of genes
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.
Some genes needing arm identification:
- ARV1 encoding protein ARV1 homolog (S. cerevisiae)
- DENN1B hypothesized to be related to asthma
- CACHD1 encoding protein Cache domain containing 1
- GBP5 encoding protein Guanylate binding protein 5
- LOC645166 encoding protein Lymphocyte-specific protein 1 pseudogene
- DISC2, long non-coding RNA
- FNBP1L encoding protein Formin-binding protein 1-like
- FRA1J encoding protein Fragile site, 5-azacytidine type, common, fra(1)(q12)
- LHX9 encoding protein LIM homeobox 9
- PACERR encoding protein PTGS2 antisense NFKB1 complex-mediated expression regulator RNA
- SPG23
- TMEM201 encoding protein Transmembrane protein 201

## p-arm
The following are some of the genes located on p-arm (short arm) of human chromosome 1:
- AADACL3: Arylacetamide deacetylase-like 3
- AADACL4: Arylacetamide deacetylase-like 4
- ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
- 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)
- C1orf103: encoding protein Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1)
- C1orf109: chromosome 1 open reading frame 109
- C1orf123: chromosome 1 open reading frame 123
- 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
- FPGT: Fucose-1-phosphate guanylyltransferase
- FUBP1 (1p31)
- GALE: UDP-galactose-4-epimerase
- GADD45A (1p31)
- GBP1 (1p22)
- GBP2: guanylate binding protein 2
- 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)
- 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
- 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)
- 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)
- TCEB3: Transcription elongation factor B polypeptide 3
- TGFBR3 (1p22)
- THRAP3 (1p34)
- TIE1 (1p34)
- 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
- 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

## q-arm
The following are some of the genes located on q-arm (long arm) of human chromosome 1:
- 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
- ARNT (1q21)
- ASPM (1q31): a brain size determinant
- ATF3 (1q32)
- ATP2B4 (1q32)
- BCL9 (1q21)
- C1orf21: chromosome 1 open reading frame 21
- C1orf35 encoding protein Chromosome 1 open reading frame 35
- C1orf49: chromosome 1 open reading frame 49
- C1orf74: chromosome 1 open reading frame 74
- C1orf106: chromosome 1 open reading frame 106
- 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
- DDX59: DEAD-box helicase 59
- DPT: Dermatopontin
- DUSP10 (1q41)
- DNAH14 encoding protein Dynein, axonemal, heavy chain 14
- ECM1 (1q21)
- EDEM3: ER degradation enhancing alpha-mannosidase like protein 3
- EGLN1 (1q42)
- ENAH (1q42)
- ESRRG (1q41)
- 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)
- FH (1q43)
- FMO3: flavin containing monooxygenase 3
- 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
- IGSF8 (1q23)
- INTS3: Integrator complex subunit 3
- IRF6: gene for connective tissue formation
- KCNH1 (1q32)
- KIF14 (1q32)
- LEFTY1: Left-right determination factor 1
- LMNA: lamin A/C
- 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 (CharcotMarieTooth 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
- 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)
- 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
- TNFSF18 (1q25)
- TNN (1q25)
- TNNT2: cardiac troponin T2
- TOR1AIP1: Torsin-1A-interacting protein 1
- TP53BP2 (1q41)
- TRP (1q31)
- UAP1: UDP-N-acetylhexosamine pyrophosphorylase
- USH2A: Usher syndrome 2A (autosomal recessive, mild)
- USF1 (1q23)
- 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: Zing finger CCCH domain-containing protein 11A
- ZNF687: zing finger protein 687
- ZNF648 encoding protein Zinc finger protein 648
- ZNF695: Zinc finger protein 695

# Diseases and disorders
There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.
The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):
- 1q21.1 deletion syndrome
- 1q21.1 duplication syndrome
- Alzheimer disease
- Breast cancer
- Brooke Greenberg Disease (Syndrome X)
- Carnitine palmitoyltransferase II deficiency
- CharcotMarieTooth 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

# Cytogenetic band