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P57796

- CABP4_HUMAN

UniProt

P57796 - CABP4_HUMAN

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Protein

Calcium-binding protein 4

Gene

CABP4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP57796.
CleanExiHS_CABP4.
ExpressionAtlasiP57796. baseline and differential.
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.
GeneTreeiENSGT00760000118901.
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

        10         20         30         40         50
MTTEQARGQQ GPNLAIGRQK PPAGVVTPKS DAEEPPLTRK RSKKERGLRG
60 70 80 90 100
SRKRTGSSGE QTGPEAPGSS NNPPSTGEGP AGAPPASPGP ASSRQSHRHR
110 120 130 140 150
PDSLHDAAQR TYGPLLNRVF GKDRELGPEE LDELQAAFEE FDTDRDGYIS
160 170 180 190 200
HRELGDCMRT LGYMPTEMEL LEVSQHIKMR MGGRVDFEEF VELIGPKLRE
210 220 230 240 250
ETAHMLGVRE LRIAFREFDR DRDGRITVAE LREAVPALLG EPLAGPELDE
260 270
MLREVDLNGD GTVDFDEFVM MLSRH
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.
CCDSiCCDS73333.1. [P57796-2]
CCDS8166.1. [P57796-1]
RefSeqiNP_660201.1. NM_145200.3. [P57796-1]
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 CCDS73333.1. [P57796-2 ]
CCDS8166.1. [P57796-1 ]
RefSeqi NP_660201.1. NM_145200.3. [P57796-1 ]
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.
GeneTreei ENSGT00760000118901.
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

Bgeei P57796.
CleanExi HS_CABP4.
ExpressionAtlasi P57796. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 117 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