Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Calcium-binding protein 4

Gene

CABP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Calcium bindingi142 – 1531PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi219 – 2302PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi256 – 2673PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • calcium channel regulator activity Source: InterPro
  • calcium ion binding Source: UniProtKB
  • ion channel binding Source: UniProtKB

GO - Biological processi

  • photoreceptor cell morphogenesis Source: Ensembl
  • phototransduction Source: Ensembl
  • retinal bipolar neuron differentiation Source: Ensembl
  • retinal cone cell development Source: Ensembl
  • signal transduction Source: UniProtKB
  • visual perception Source: UniProtKB

Keywordsi

LigandCalcium, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000175544.13
HGNCiHGNC:1386 CABP4
MIMi608965 gene
neXtProtiNX_P57796

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cone-rod synaptic disorder, congenital non-progressive (CRSD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness.
See also OMIM:610427
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029375124R → C in CRSD. 1 PublicationCorresponds to variant dbSNP:rs121917828EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi57010
MalaCardsiCABP4
MIMi610427 phenotype
OpenTargetsiENSG00000175544
Orphaneti215 Congenital stationary night blindness
PharmGKBiPA26003

Polymorphism and mutation databases

BioMutaiCABP4
DMDMi20178284

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000735211 – 275Calcium-binding protein 4Add BLAST275

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei42PhosphoserineBy similarity1

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
PeptideAtlasiP57796
PRIDEiP57796
ProteomicsDBi57041
57042 [P57796-2]

PTM databases

iPTMnetiP57796
PhosphoSitePlusiP57796

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000175544 Expressed in 195 organ(s), highest expression level in prostate gland
CleanExiHS_CABP4
ExpressionAtlasiP57796 baseline and differential
GenevisibleiP57796 HS

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121324, 3 interactors
IntActiP57796, 6 interactors
STRINGi9606.ENSP00000324960

Structurei

3D structure databases

ProteinModelPortaliP57796
SMRiP57796
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini129 – 164EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini165 – 200EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini206 – 241EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini243 – 275EF-hand 4PROSITE-ProRule annotationAdd BLAST33

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00760000118901
HOGENOMiHOG000233018
HOVERGENiHBG012180
InParanoidiP57796
OMAiRELGDCM
OrthoDBiEOG091G0PB4
PhylomeDBiP57796
TreeFamiTF334804

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR033014 CABP4
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PANTHERiPTHR23050:SF196 PTHR23050:SF196, 1 hit
PfamiView protein in Pfam
PF00036 EF-hand_1, 1 hit
PF13499 EF-hand_7, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 3 hits
PS50222 EF_HAND_2, 4 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H3E8F5H3E8_HUMAN
Calcium-binding protein 4
CABP4
128Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029375124R → C in CRSD. 1 PublicationCorresponds to variant dbSNP:rs121917828EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0127001 – 105Missing in isoform 2. 1 PublicationAdd BLAST105
Alternative sequenceiVSP_012701106 – 122DAAQR…RVFGK → MTEPWLALGTSWTLPLQ in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001287824.1, NM_001300895.1 [P57796-2]
NP_001287825.1, NM_001300896.1 [P57796-2]
NP_660201.1, NM_145200.3 [P57796-1]
XP_011543485.1, XM_011545183.2 [P57796-2]
XP_016873514.1, XM_017018025.1 [P57796-2]
UniGeneiHs.143036
Hs.734577

Genome annotation databases

EnsembliENST00000325656; ENSP00000324960; ENSG00000175544 [P57796-1]
ENST00000438189; ENSP00000401555; ENSG00000175544 [P57796-2]
GeneIDi57010
KEGGihsa:57010
UCSCiuc001oln.4 human [P57796-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCABP4_HUMAN
AccessioniPrimary (citable) accession number: P57796
Secondary accession number(s): Q8N4Z2, Q8WWY5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 16, 2002
Last modified: September 12, 2018
This is version 145 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again