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P57796 (CABP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Calcium-binding protein 4

Short name=CaBP4
Gene names
Name:CABP4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length275 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cytoplasm. Note: Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors By similarity. Ref.5

Tissue specificity

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

Post-translational modification

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

Involvement in disease

Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 4 EF-hand domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P57796-1)

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.
Isoform 2 (identifier: P57796-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.
     106-122: DAAQRTYGPLLNRVFGK → MTEPWLALGTSWTLPLQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 275275Calcium-binding protein 4
PRO_0000073521

Regions

Domain129 – 16436EF-hand 1
Domain165 – 20036EF-hand 2
Domain206 – 24136EF-hand 3
Domain243 – 27533EF-hand 4
Calcium binding142 – 153121 Potential
Calcium binding219 – 230122 Potential
Calcium binding256 – 267123 Potential

Amino acid modifications

Modified residue421Phosphoserine By similarity

Natural variations

Alternative sequence1 – 105105Missing in isoform 2.
VSP_012700
Alternative sequence106 – 12217DAAQR…RVFGK → MTEPWLALGTSWTLPLQ in isoform 2.
VSP_012701
Natural variant1241R → C in CSNB2B. Ref.6
Corresponds to variant rs121917828 [ dbSNP | Ensembl ].
VAR_029375

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 16, 2002. Version 2.
Checksum: 1AEB49C93AD67DB7

FASTA27530,433
        10         20         30         40         50         60 
MTTEQARGQQ GPNLAIGRQK PPAGVVTPKS DAEEPPLTRK RSKKERGLRG SRKRTGSSGE 

        70         80         90        100        110        120 
QTGPEAPGSS NNPPSTGEGP AGAPPASPGP ASSRQSHRHR PDSLHDAAQR TYGPLLNRVF 

       130        140        150        160        170        180 
GKDRELGPEE LDELQAAFEE FDTDRDGYIS HRELGDCMRT LGYMPTEMEL LEVSQHIKMR 

       190        200        210        220        230        240 
MGGRVDFEEF VELIGPKLRE ETAHMLGVRE LRIAFREFDR DRDGRITVAE LREAVPALLG 

       250        260        270 
EPLAGPELDE MLREVDLNGD GTVDFDEFVM MLSRH 

« Hide

Isoform 2 [UniParc].

Checksum: 7999EB97D2F28BAF
Show »

FASTA17019,600

References

« Hide 'large scale' references
[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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY039217 mRNA. Translation: AAK83462.1.
AC005849 Genomic DNA. No translation available.
BC033167 mRNA. Translation: AAH33167.1.
CCDSCCDS8166.1. [P57796-1]
RefSeqNP_660201.1. NM_145200.3. [P57796-1]
XP_005274172.1. XM_005274115.1. [P57796-2]
UniGeneHs.143036.

3D structure databases

ProteinModelPortalP57796.
SMRP57796. Positions 123-274.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121324. 1 interaction.
STRING9606.ENSP00000324960.

PTM databases

PhosphoSiteP57796.

Polymorphism databases

DMDM20178284.

Proteomic databases

PaxDbP57796.
PRIDEP57796.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325656; ENSP00000324960; ENSG00000175544. [P57796-1]
ENST00000438189; ENSP00000401555; ENSG00000175544. [P57796-2]
GeneID57010.
KEGGhsa:57010.
UCSCuc001oln.3. human. [P57796-2]
uc001olo.3. human. [P57796-1]

Organism-specific databases

CTD57010.
GeneCardsGC11P067222.
H-InvDBHIX0009861.
HGNCHGNC:1386. CABP4.
HPAHPA043702.
MIM608965. gene.
610427. phenotype.
neXtProtNX_P57796.
Orphanet215. Congenital stationary night blindness.
PharmGKBPA26003.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5126.
HOGENOMHOG000233018.
HOVERGENHBG012180.
InParanoidP57796.
OMANRIFGKD.
OrthoDBEOG7XM303.
PhylomeDBP57796.
TreeFamTF334804.

Gene expression databases

ArrayExpressP57796.
BgeeP57796.
CleanExHS_CABP4.
GenevestigatorP57796.

Family and domain databases

Gene3D1.10.238.10. 2 hits.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamPF00036. EF-hand_1. 1 hit.
PF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTSM00054. EFh. 3 hits.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57010.
NextBio62754.
PROP57796.
SOURCESearch...

Entry information

Entry nameCABP4_HUMAN
AccessionPrimary (citable) accession number: P57796
Secondary accession number(s): Q8N4Z2, Q8WWY5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 16, 2002
Last modified: July 9, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM