P57796 (CABP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Calcium-binding protein 4
Short name=CaBP4

Gene names

Name:

CABP4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	275 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Congenital stationary night blindness 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.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Disease	Congenital stationary night blindness Disease mutation
Domain	Repeat
Ligand	Calcium Metal-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	photoreceptor cell morphogenesis Inferred from electronic annotation. Source: Compara phototransduction Inferred from electronic annotation. Source: Compara retinal bipolar neuron differentiation Inferred from electronic annotation. Source: Compara retinal cone cell development Inferred from electronic annotation. Source: Compara signal transduction Non-traceable author statement Ref.4. Source: UniProtKB visual perception Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	cytosol Inferred from direct assay Ref.5. Source: MGI extracellular region Non-traceable author statement Ref.6. Source: UniProtKB terminal bouton Traceable author statement Ref.1. Source: UniProtKB
Molecular_function	calcium ion binding Non-traceable author statement Ref.6. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 275	275	Calcium-binding protein 4		PRO_0000073521
Regions
	Domain	129 – 164	36	EF-hand 1
	Domain	165 – 200	36	EF-hand 2
	Domain	206 – 241	36	EF-hand 3
	Domain	243 – 275	33	EF-hand 4
	Calcium binding	142 – 153	12	1 Potential
	Calcium binding	219 – 230	12	2 Potential
	Calcium binding	256 – 267	12	3 Potential
Natural variations
	Alternative sequence	1 – 105	105	Missing in isoform 2.		VSP_012700
	Alternative sequence	106 – 122	17	DAAQR…RVFGK → MTEPWLALGTSWTLPLQ in isoform 2.		VSP_012701
	Natural variant	124	1	R → C in CSNB2B. Ref.6		VAR_029375

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 16, 2002. Version 2. Checksum: 1AEB49C93AD67DB7	FASTA	275	30,433
	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
	Isoform 2 [UniParc]. Checksum: 7999EB97D2F28BAF	FASTA	170	19,600
	10 20 30 40 50 60 MTEPWLALGT SWTLPLQDRE LGPEELDELQ AAFEEFDTDR DGYISHRELG DCMRTLGYMP 70 80 90 100 110 120 TEMELLEVSQ HIKMRMGGRV DFEEFVELIG PKLREETAHM LGVRELRIAF REFDRDRDGR 130 140 150 160 170 ITVAELREAV PALLGEPLAG PELDEMLREV DLNGDGTVDF DEFVMMLSRH

References

	« Hide 'large scale' referencesShow '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. , 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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY039217 mRNA. Translation: AAK83462.1. AC005849 Genomic DNA. No translation available. BC033167 mRNA. Translation: AAH33167.1.
IPI	IPI00028089. IPI00166824.
RefSeq	NP_660201.1. NM_145200.3.
UniGene	Hs.143036.
3D structure databases
ProteinModelPortal	P57796.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000324960.
PTM databases
PhosphoSite	P57796.
Polymorphism databases
DMDM	20178284.
Proteomic databases
PaxDb	P57796.
PRIDE	P57796.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325656; ENSP00000324960; ENSG00000175544. ENST00000438189; ENSP00000401555; ENSG00000175544.
GeneID	57010.
KEGG	hsa:57010.
UCSC	uc001oln.3. human. uc001olo.3. human.
Organism-specific databases
CTD	57010.
GeneCards	GC11P067222.
H-InvDB	HIX0009861.
HGNC	HGNC:1386. CABP4.
HPA	HPA043702.
MIM	608965. gene. 610427. phenotype.
neXtProt	NX_P57796.
Orphanet	215. Congenital stationary night blindness.
PharmGKB	PA26003.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5126.
HOGENOM	HOG000233018.
HOVERGEN	HBG012180.
InParanoid	P57796.
OMA	QSHRHRP.
OrthoDB	EOG4ZS93W.
PhylomeDB	P57796.
Gene expression databases
ArrayExpress	P57796.
Bgee	P57796.
CleanEx	HS_CABP4.
Genevestigator	P57796.
GermOnline	ENSG00000175544. Homo sapiens.
Family and domain databases
Gene3D	1.10.238.10. 2 hits.
InterPro	IPR015754. Ca_binding_pro. IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. [Graphical view]
PANTHER	PTHR23050:SF21. PTHR23050:SF21. 1 hit.
Pfam	PF13499. EF_hand_5. 1 hit. PF00036. efhand. 1 hit. [Graphical view]
SMART	SM00054. EFh. 3 hits. [Graphical view]
PROSITE	PS00018. EF_HAND_1. 3 hits. PS50222. EF_HAND_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57010.
NextBio	62754.
SOURCE	Search...

Entry information

Entry name

CABP4_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 103 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.