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P57796

- CABP4_HUMAN

UniProt

P57796 - CABP4_HUMAN

Protein

Calcium-binding protein 4

Gene

CABP4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (16 Apr 2002)
      Previous versions | rss
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    Functioni

    Involved in normal synaptic function through regulation of Ca2+ influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi142 – 153121PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi219 – 230122PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi256 – 267123PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: UniProtKB

    GO - Biological processi

    1. photoreceptor cell morphogenesis Source: Ensembl
    2. phototransduction Source: Ensembl
    3. retinal bipolar neuron differentiation Source: Ensembl
    4. retinal cone cell development Source: Ensembl
    5. signal transduction Source: UniProtKB
    6. visual perception Source: UniProtKB

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Calcium-binding protein 4
    Short name:
    CaBP4
    Gene namesi
    Name:CABP4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:1386. CABP4.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors.By similarity

    GO - Cellular componenti

    1. cytosol Source: MGI
    2. extracellular region Source: UniProtKB
    3. synapse Source: UniProtKB
    4. terminal bouton Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241R → C in CSNB2B. 1 Publication
    Corresponds to variant rs121917828 [ dbSNP | Ensembl ].
    VAR_029375

    Keywords - Diseasei

    Congenital stationary night blindness, Disease mutation

    Organism-specific databases

    MIMi610427. phenotype.
    Orphaneti215. Congenital stationary night blindness.
    PharmGKBiPA26003.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 275275Calcium-binding protein 4PRO_0000073521Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei42 – 421PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiP57796.
    PRIDEiP57796.

    PTM databases

    PhosphoSiteiP57796.

    Expressioni

    Tissue specificityi

    Expressed in retina and in the inner hair cells (IHC) of the cochlea.

    Gene expression databases

    ArrayExpressiP57796.
    BgeeiP57796.
    CleanExiHS_CABP4.
    GenevestigatoriP57796.

    Organism-specific databases

    HPAiHPA043702.

    Interactioni

    Subunit structurei

    Interacts with CACNA1F and CACNA1D (via IQ domain) in a calcium independent manner. Interacts (via N-terminus) with UNC119.By similarity

    Protein-protein interaction databases

    BioGridi121324. 1 interaction.
    STRINGi9606.ENSP00000324960.

    Structurei

    3D structure databases

    ProteinModelPortaliP57796.
    SMRiP57796. Positions 123-274.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini129 – 16436EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini165 – 20036EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini206 – 24136EF-hand 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini243 – 27533EF-hand 4PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 4 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5126.
    HOGENOMiHOG000233018.
    HOVERGENiHBG012180.
    InParanoidiP57796.
    OMAiNRIFGKD.
    OrthoDBiEOG7XM303.
    PhylomeDBiP57796.
    TreeFamiTF334804.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    [Graphical view]
    PfamiPF00036. EF-hand_1. 1 hit.
    PF13499. EF-hand_7. 1 hit.
    [Graphical view]
    SMARTiSM00054. EFh. 3 hits.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 3 hits.
    PS50222. EF_HAND_2. 4 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P57796-1) [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

    MTTEQARGQQ GPNLAIGRQK PPAGVVTPKS DAEEPPLTRK RSKKERGLRG    50
    SRKRTGSSGE QTGPEAPGSS NNPPSTGEGP AGAPPASPGP ASSRQSHRHR 100
    PDSLHDAAQR TYGPLLNRVF GKDRELGPEE LDELQAAFEE FDTDRDGYIS 150
    HRELGDCMRT LGYMPTEMEL LEVSQHIKMR MGGRVDFEEF VELIGPKLRE 200
    ETAHMLGVRE LRIAFREFDR DRDGRITVAE LREAVPALLG EPLAGPELDE 250
    MLREVDLNGD GTVDFDEFVM MLSRH 275
    Length:275
    Mass (Da):30,433
    Last modified:April 16, 2002 - v2
    Checksum:i1AEB49C93AD67DB7
    GO
    Isoform 2 (identifier: P57796-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-105: Missing.
         106-122: DAAQRTYGPLLNRVFGK → MTEPWLALGTSWTLPLQ

    Note: No experimental confirmation available.

    Show »
    Length:170
    Mass (Da):19,600
    Checksum:i7999EB97D2F28BAF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241R → C in CSNB2B. 1 Publication
    Corresponds to variant rs121917828 [ dbSNP | Ensembl ].
    VAR_029375

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 105105Missing in isoform 2. 1 PublicationVSP_012700Add
    BLAST
    Alternative sequencei106 – 12217DAAQR…RVFGK → MTEPWLALGTSWTLPLQ in isoform 2. 1 PublicationVSP_012701Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY039217 mRNA. Translation: AAK83462.1.
    AC005849 Genomic DNA. No translation available.
    BC033167 mRNA. Translation: AAH33167.1.
    CCDSiCCDS8166.1. [P57796-1]
    RefSeqiNP_660201.1. NM_145200.3. [P57796-1]
    XP_005274172.1. XM_005274115.1. [P57796-2]
    UniGeneiHs.143036.

    Genome annotation databases

    EnsembliENST00000325656; ENSP00000324960; ENSG00000175544. [P57796-1]
    ENST00000438189; ENSP00000401555; ENSG00000175544. [P57796-2]
    GeneIDi57010.
    KEGGihsa:57010.
    UCSCiuc001oln.3. human. [P57796-2]
    uc001olo.3. human. [P57796-1]

    Polymorphism databases

    DMDMi20178284.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY039217 mRNA. Translation: AAK83462.1 .
    AC005849 Genomic DNA. No translation available.
    BC033167 mRNA. Translation: AAH33167.1 .
    CCDSi CCDS8166.1. [P57796-1 ]
    RefSeqi NP_660201.1. NM_145200.3. [P57796-1 ]
    XP_005274172.1. XM_005274115.1. [P57796-2 ]
    UniGenei Hs.143036.

    3D structure databases

    ProteinModelPortali P57796.
    SMRi P57796. Positions 123-274.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121324. 1 interaction.
    STRINGi 9606.ENSP00000324960.

    PTM databases

    PhosphoSitei P57796.

    Polymorphism databases

    DMDMi 20178284.

    Proteomic databases

    PaxDbi P57796.
    PRIDEi P57796.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325656 ; ENSP00000324960 ; ENSG00000175544 . [P57796-1 ]
    ENST00000438189 ; ENSP00000401555 ; ENSG00000175544 . [P57796-2 ]
    GeneIDi 57010.
    KEGGi hsa:57010.
    UCSCi uc001oln.3. human. [P57796-2 ]
    uc001olo.3. human. [P57796-1 ]

    Organism-specific databases

    CTDi 57010.
    GeneCardsi GC11P067222.
    H-InvDB HIX0009861.
    HGNCi HGNC:1386. CABP4.
    HPAi HPA043702.
    MIMi 608965. gene.
    610427. phenotype.
    neXtProti NX_P57796.
    Orphaneti 215. Congenital stationary night blindness.
    PharmGKBi PA26003.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5126.
    HOGENOMi HOG000233018.
    HOVERGENi HBG012180.
    InParanoidi P57796.
    OMAi NRIFGKD.
    OrthoDBi EOG7XM303.
    PhylomeDBi P57796.
    TreeFami TF334804.

    Miscellaneous databases

    GenomeRNAii 57010.
    NextBioi 62754.
    PROi P57796.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P57796.
    Bgeei P57796.
    CleanExi HS_CABP4.
    Genevestigatori P57796.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    Pfami PF00036. EF-hand_1. 1 hit.
    PF13499. EF-hand_7. 1 hit.
    [Graphical view ]
    SMARTi SM00054. EFh. 3 hits.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 3 hits.
    PS50222. EF_HAND_2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function."
      Haeseleer F., Imanishi Y., Maeda T., Possin D.E., Maeda A., Lee A., Rieke F., Palczewski K.
      Nat. Neurosci. 7:1079-1087(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Retina.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 2).
      Tissue: Lung.
    4. "Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin."
      Haeseleer F., Sokal I., Verlinde C.L.M.J., Erdjument-Bromage H., Tempst P., Pronin A.N., Benovic J.L., Fariss R.N., Palczewski K.
      J. Biol. Chem. 275:1247-1260(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    5. "Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8."
      McCue H.V., Burgoyne R.D., Haynes L.P.
      Biochem. Biophys. Res. Commun. 380:825-831(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. "Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness."
      Zeitz C., Kloeckener-Gruissem B., Forster U., Kohl S., Magyar I., Wissinger B., Matyas G., Borruat F.-X., Schorderet D.F., Zrenner E., Munier F.L., Berger W.
      Am. J. Hum. Genet. 79:657-667(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSNB2B CYS-124.

    Entry informationi

    Entry nameiCABP4_HUMAN
    AccessioniPrimary (citable) accession number: P57796
    Secondary accession number(s): Q8N4Z2, Q8WWY5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: April 16, 2002
    Last modified: October 1, 2014
    This is version 116 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 11
      Human chromosome 11: 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