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Q9HCJ1

- ANKH_HUMAN

UniProt

Q9HCJ1 - ANKH_HUMAN

Protein

Progressive ankylosis protein homolog

Gene

ANKH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (16 Nov 2001)
      Previous versions | rss
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    Functioni

    Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.

    GO - Molecular functioni

    1. inorganic diphosphate transmembrane transporter activity Source: UniProtKB
    2. inorganic phosphate transmembrane transporter activity Source: UniProtKB
    3. phosphate ion transmembrane transporter activity Source: InterPro

    GO - Biological processi

    1. inorganic diphosphate transport Source: GOC
    2. locomotory behavior Source: UniProtKB
    3. regulation of bone mineralization Source: UniProtKB
    4. skeletal system development Source: UniProtKB

    Keywords - Biological processi

    Phosphate transport, Transport

    Protein family/group databases

    TCDBi2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Progressive ankylosis protein homolog
    Short name:
    ANK
    Gene namesi
    Name:ANKH
    Synonyms:KIAA1581
    ORF Names:UNQ241/PRO274
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:15492. ANKH.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. integral component of plasma membrane Source: UniProtKB
    3. outer membrane Source: UniProtKB
    4. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Chondrocalcinosis 2 (CCAL2) [MIM:118600]: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51P → L in CCAL2. 1 Publication
    VAR_022606
    Natural varianti5 – 51P → T in CCAL2. 1 Publication
    VAR_022607
    Natural varianti48 – 481M → T in CCAL2. 1 Publication
    VAR_017556
    Natural varianti490 – 4901Missing in CCAL2; sporadic. 1 Publication
    VAR_017557
    Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti292 – 2921W → R in CMDD. 1 Publication
    VAR_012192
    Natural varianti331 – 3311C → R in CMDD. 1 Publication
    VAR_012193
    Natural varianti375 – 3751Missing in CMDD. 2 Publications
    VAR_012194
    Natural varianti376 – 3761Missing in CMDD. 1 Publication
    VAR_012195
    Natural varianti377 – 3771Missing in CMDD. 1 Publication
    VAR_012196
    Natural varianti380 – 3801P → PA in CMDD. 2 Publications
    VAR_012197
    Natural varianti389 – 3891G → R in CMDD. 1 Publication
    Corresponds to variant rs28939080 [ dbSNP | Ensembl ].
    VAR_012198

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi118600. phenotype.
    123000. phenotype.
    Orphaneti1522. Craniometaphyseal dysplasia.
    1416. Familial calcium pyrophosphate deposition.
    PharmGKBiPA24801.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 492492Progressive ankylosis protein homologPRO_0000137467Add
    BLAST

    Proteomic databases

    MaxQBiQ9HCJ1.
    PaxDbiQ9HCJ1.
    PRIDEiQ9HCJ1.

    PTM databases

    PhosphoSiteiQ9HCJ1.

    Expressioni

    Tissue specificityi

    Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.

    Gene expression databases

    ArrayExpressiQ9HCJ1.
    BgeeiQ9HCJ1.
    CleanExiHS_ANKH.
    GenevestigatoriQ9HCJ1.

    Interactioni

    Protein-protein interaction databases

    BioGridi121103. 3 interactions.
    IntActiQ9HCJ1. 1 interaction.
    STRINGi9606.ENSP00000284268.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCJ1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8585CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini107 – 13125ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini153 – 1586CytoplasmicSequence Analysis
    Topological domaini180 – 18910ExtracellularSequence Analysis
    Topological domaini211 – 326116CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini348 – 3503ExtracellularSequence Analysis
    Topological domaini372 – 40332CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini427 – 4293ExtracellularSequence Analysis
    Topological domaini453 – 49240CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei86 – 10621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei132 – 15221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei159 – 17921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei190 – 21021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei327 – 34721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei351 – 37121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei404 – 42623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei430 – 45223HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ANKH family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG19764.
    HOGENOMiHOG000033943.
    HOVERGENiHBG018728.
    InParanoidiQ9HCJ1.
    OMAiYMGVHGA.
    OrthoDBiEOG7KH9JM.
    PhylomeDBiQ9HCJ1.
    TreeFamiTF333504.

    Family and domain databases

    InterProiIPR009887. ANKH.
    [Graphical view]
    PfamiPF07260. ANKH. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HCJ1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA    50
    SYGLAYSLMK FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF 100
    HTLIAYSDLG YYIINKLHHV DESVGSKTRR AFLYLAAFPF MDAMAWTHAG 150
    ILLKHKYSFL VGCASISDVI AQVVFVAILL HSHLECREPL LIPILSLYMG 200
    ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF WWPLALILAT 250
    QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY 300
    PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE 350
    KILIDIIGVD FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL 400
    APSSVLRIIV LIASLVVLPY LGVHGATLGV GSLLAGFVGE STMVAIAACY 450
    VYRKQKKKME NESATEGEDS AMTDMPPTEE VTDIVEMREE NE 492
    Length:492
    Mass (Da):54,241
    Last modified:November 16, 2001 - v2
    Checksum:i44BFEE9089BDEC6B
    GO
    Isoform 2 (identifier: Q9HCJ1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-198: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:294
    Mass (Da):32,259
    Checksum:iED76E746015E449A
    GO

    Sequence cautioni

    The sequence BAB13407.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti78 – 781N → S in AAF88039. (PubMed:10894769)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51P → L in CCAL2. 1 Publication
    VAR_022606
    Natural varianti5 – 51P → T in CCAL2. 1 Publication
    VAR_022607
    Natural varianti48 – 481M → T in CCAL2. 1 Publication
    VAR_017556
    Natural varianti292 – 2921W → R in CMDD. 1 Publication
    VAR_012192
    Natural varianti331 – 3311C → R in CMDD. 1 Publication
    VAR_012193
    Natural varianti375 – 3751Missing in CMDD. 2 Publications
    VAR_012194
    Natural varianti376 – 3761Missing in CMDD. 1 Publication
    VAR_012195
    Natural varianti377 – 3771Missing in CMDD. 1 Publication
    VAR_012196
    Natural varianti380 – 3801P → PA in CMDD. 2 Publications
    VAR_012197
    Natural varianti389 – 3891G → R in CMDD. 1 Publication
    Corresponds to variant rs28939080 [ dbSNP | Ensembl ].
    VAR_012198
    Natural varianti490 – 4901Missing in CCAL2; sporadic. 1 Publication
    VAR_017557

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 198198Missing in isoform 2. 1 PublicationVSP_055824Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF274753 mRNA. Translation: AAF88039.1.
    AB046801 mRNA. Translation: BAB13407.1. Different initiation.
    AY358503 mRNA. Translation: AAQ88867.1.
    AK001799 mRNA. Translation: BAG50976.1.
    AC010491 Genomic DNA. No translation available.
    AC016575 Genomic DNA. No translation available.
    AC025456 Genomic DNA. No translation available.
    AK315012 mRNA. Translation: BAG37504.1.
    CH471102 Genomic DNA. Translation: EAX08034.1.
    CH471102 Genomic DNA. Translation: EAX08035.1.
    BC009835 mRNA. Translation: AAH09835.1.
    BC014526 mRNA. Translation: AAH14526.1.
    CCDSiCCDS3885.1.
    RefSeqiNP_473368.1. NM_054027.4.
    UniGeneiHs.156727.

    Genome annotation databases

    EnsembliENST00000284268; ENSP00000284268; ENSG00000154122. [Q9HCJ1-1]
    GeneIDi56172.
    KEGGihsa:56172.
    UCSCiuc003jfm.4. human.

    Polymorphism databases

    DMDMi17366849.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF274753 mRNA. Translation: AAF88039.1 .
    AB046801 mRNA. Translation: BAB13407.1 . Different initiation.
    AY358503 mRNA. Translation: AAQ88867.1 .
    AK001799 mRNA. Translation: BAG50976.1 .
    AC010491 Genomic DNA. No translation available.
    AC016575 Genomic DNA. No translation available.
    AC025456 Genomic DNA. No translation available.
    AK315012 mRNA. Translation: BAG37504.1 .
    CH471102 Genomic DNA. Translation: EAX08034.1 .
    CH471102 Genomic DNA. Translation: EAX08035.1 .
    BC009835 mRNA. Translation: AAH09835.1 .
    BC014526 mRNA. Translation: AAH14526.1 .
    CCDSi CCDS3885.1.
    RefSeqi NP_473368.1. NM_054027.4.
    UniGenei Hs.156727.

    3D structure databases

    ProteinModelPortali Q9HCJ1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121103. 3 interactions.
    IntActi Q9HCJ1. 1 interaction.
    STRINGi 9606.ENSP00000284268.

    Protein family/group databases

    TCDBi 2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

    PTM databases

    PhosphoSitei Q9HCJ1.

    Polymorphism databases

    DMDMi 17366849.

    Proteomic databases

    MaxQBi Q9HCJ1.
    PaxDbi Q9HCJ1.
    PRIDEi Q9HCJ1.

    Protocols and materials databases

    DNASUi 56172.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000284268 ; ENSP00000284268 ; ENSG00000154122 . [Q9HCJ1-1 ]
    GeneIDi 56172.
    KEGGi hsa:56172.
    UCSCi uc003jfm.4. human.

    Organism-specific databases

    CTDi 56172.
    GeneCardsi GC05M014706.
    GeneReviewsi ANKH.
    HGNCi HGNC:15492. ANKH.
    MIMi 118600. phenotype.
    123000. phenotype.
    605145. gene.
    neXtProti NX_Q9HCJ1.
    Orphaneti 1522. Craniometaphyseal dysplasia.
    1416. Familial calcium pyrophosphate deposition.
    PharmGKBi PA24801.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG19764.
    HOGENOMi HOG000033943.
    HOVERGENi HBG018728.
    InParanoidi Q9HCJ1.
    OMAi YMGVHGA.
    OrthoDBi EOG7KH9JM.
    PhylomeDBi Q9HCJ1.
    TreeFami TF333504.

    Miscellaneous databases

    ChiTaRSi ANKH. human.
    GeneWikii ANKH.
    GenomeRNAii 56172.
    NextBioi 61818.
    PROi Q9HCJ1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HCJ1.
    Bgeei Q9HCJ1.
    CleanExi HS_ANKH.
    Genevestigatori Q9HCJ1.

    Family and domain databases

    InterProi IPR009887. ANKH.
    [Graphical view ]
    Pfami PF07260. ANKH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Role of the mouse ank gene in control of tissue calcification and arthritis."
      Ho A.M., Johnson M.D., Kingsley D.M.
      Science 289:265-270(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Cerebellum and Ovarian cancer.
    5. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Ovary.
    8. Cited for: VARIANTS CMDD SER-375 DEL; PHE-376 DEL AND ALA-380 INS.
    9. "Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia."
      Nuernberg P., Thiele H., Chandler D., Hoehne W., Cunningham M.L., Ritter H., Leschik G., Uhlmann K., Mischung C., Harrop K., Goldblatt J., Borochowitz Z.U., Kotzot D., Westermann F., Mundlos S., Braun H.-S., Laing N., Tinschert S.
      Nat. Genet. 28:37-41(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMDD ARG-292; ARG-331; SER-375 DEL; PHE-377 DEL; ALA-380 INS AND ARG-389.
    10. Cited for: VARIANTS CCAL2 THR-48 AND GLU-490 DEL.
    11. "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH."
      Williams C.J., Zhang Y., Timms A., Bonavita G., Caeiro F., Broxholme J., Cuthbertson J., Jones Y., Marchegiani R., Reginato A., Russell R.G.G., Wordsworth B.P., Carr A.J., Brown M.A.
      Am. J. Hum. Genet. 71:985-991(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CCAL2 LEU-5.
    12. "Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease."
      Williams C.J., Pendleton A., Bonavita G., Reginato A.J., Hughes A.E., Peariso S., Doherty M., McCarty D.J., Ryan L.M.
      Arthritis Rheum. 48:2627-2631(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CCAL2 THR-5.

    Entry informationi

    Entry nameiANKH_HUMAN
    AccessioniPrimary (citable) accession number: Q9HCJ1
    Secondary accession number(s): B2RCA7
    , B3KMG4, D3DTD4, Q9NQW2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: November 16, 2001
    Last modified: October 1, 2014
    This is version 119 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3