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Q14CN2

- CLCA4_HUMAN

UniProt

Q14CN2 - CLCA4_HUMAN

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Protein

Calcium-activated chloride channel regulator 4

Gene
CLCA4, CaCC2, UNQ562/PRO1124
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May be involved in mediating calcium-activated chloride conductance.

GO - Molecular functioni

  1. chloride channel activity Source: ProtInc

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. chloride transport Source: GOC
  3. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Chloride

Protein family/group databases

MEROPSiM87.002.
TCDBi1.A.13.1.2. the epithelial chloride channel (e-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium-activated chloride channel regulator 4
Alternative name(s):
Calcium-activated chloride channel family member 4
Short name:
hCLCA4
Calcium-activated chloride channel protein 2
Short name:
CaCC-2
Short name:
hCaCC-2
Cleaved into the following 2 chains:
Gene namesi
Name:CLCA4
Synonyms:CaCC2
ORF Names:UNQ562/PRO1124
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:2018. CLCA4.

Subcellular locationi

Cell membrane; Single-pass membrane protein By similarity. Apical cell membrane By similarity. Secreted By similarity
Note: The C-terminus 30 kDa form is anchored to the membrane By similarity. The N-terminus 110 kDa form is released from the membrane triggered by an unknown stimulus By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei895 – 91521Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB-SubCell
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

Orphaneti586. Cystic fibrosis.
PharmGKBiPA26545.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 919Calcium-activated chloride channel regulator 4, 30 kDa formPRO_0000345391
Signal peptidei1 – 2121 Reviewed predictionAdd
BLAST
Chaini22 – 919898Calcium-activated chloride channel regulator 4PRO_0000345389Add
BLAST
Chaini22 – ?Calcium-activated chloride channel regulator 4, 110 kDa formPRO_0000345390

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi75 – 751N-linked (GlcNAc...) Reviewed prediction
Glycosylationi340 – 3401N-linked (GlcNAc...) Reviewed prediction
Glycosylationi504 – 5041N-linked (GlcNAc...) Reviewed prediction
Glycosylationi542 – 5421N-linked (GlcNAc...) Reviewed prediction
Glycosylationi588 – 5881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi628 – 6281N-linked (GlcNAc...) Reviewed prediction
Glycosylationi811 – 8111N-linked (GlcNAc...)1 Publication
Glycosylationi832 – 8321N-linked (GlcNAc...) Reviewed prediction
Glycosylationi837 – 8371N-linked (GlcNAc...) Reviewed prediction
Glycosylationi852 – 8521N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Processed at a monobasic residue to yield a larger N-terminal and a smaller C-terminal cleavage products of 90 to 110 and 30 to 35 kDa, respectively By similarity.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ14CN2.
PRIDEiQ14CN2.

Expressioni

Tissue specificityi

Primarily expressed in the digestive tract, mainly in colon. Detected in smaller amounts in brain, urogenital organs, testis, and salivary and mammary glands. Highly expressed in the epithelial layer and submucosal gland of the inferior turbinate mucosa. Lower levels in the epithelial layer of nasal polyp.3 Publications

Inductioni

Down-regulated in oral tongue squamous cell carcinomas.1 Publication

Gene expression databases

ArrayExpressiQ14CN2.
BgeeiQ14CN2.
CleanExiHS_CLCA4.
GenevestigatoriQ14CN2.

Organism-specific databases

HPAiHPA017045.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000359594.

Structurei

3D structure databases

ProteinModelPortaliQ14CN2.
SMRiQ14CN2. Positions 303-439.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini306 – 476171VWFAAdd
BLAST

Sequence similaritiesi

Belongs to the CLCR family.
Contains 1 VWFA domain.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG42884.
HOGENOMiHOG000015107.
HOVERGENiHBG005560.
KOiK05030.
OMAiPWMNDTV.
OrthoDBiEOG78WKR1.
PhylomeDBiQ14CN2.
TreeFamiTF328396.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR004727. CaCC_prot.
IPR013642. Cl_channel_Ca.
IPR015394. DUF1973.
IPR002035. VWF_A.
[Graphical view]
PfamiPF08434. CLCA_N. 1 hit.
PF09315. DUF1973. 1 hit.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
TIGRFAMsiTIGR00868. hCaCC. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14CN2-1 [UniParc]FASTAAdd to Basket

« Hide

MGLFRGFVFL LVLCLLHQSN TSFIKLNNNG FEDIVIVIDP SVPEDEKIIE    50
QIEDMVTTAS TYLFEATEKR FFFKNVSILI PENWKENPQY KRPKHENHKH 100
ADVIVAPPTL PGRDEPYTKQ FTECGEKGEY IHFTPDLLLG KKQNEYGPPG 150
KLFVHEWAHL RWGVFDEYNE DQPFYRAKSK KIEATRCSAG ISGRNRVYKC 200
QGGSCLSRAC RIDSTTKLYG KDCQFFPDKV QTEKASIMFM QSIDSVVEFC 250
NEKTHNQEAP SLQNIKCNFR STWEVISNSE DFKNTIPMVT PPPPPVFSLL 300
KISQRIVCLV LDKSGSMGGK DRLNRMNQAA KHFLLQTVEN GSWVGMVHFD 350
STATIVNKLI QIKSSDERNT LMAGLPTYPL GGTSICSGIK YAFQVIGELH 400
SQLDGSEVLL LTDGEDNTAS SCIDEVKQSG AIVHFIALGR AADEAVIEMS 450
KITGGSHFYV SDEAQNNGLI DAFGALTSGN TDLSQKSLQL ESKGLTLNSN 500
AWMNDTVIID STVGKDTFFL ITWNSLPPSI SLWDPSGTIM ENFTVDATSK 550
MAYLSIPGTA KVGTWAYNLQ AKANPETLTI TVTSRAANSS VPPITVNAKM 600
NKDVNSFPSP MIVYAEILQG YVPVLGANVT AFIESQNGHT EVLELLDNGA 650
GADSFKNDGV YSRYFTAYTE NGRYSLKVRA HGGANTARLK LRPPLNRAAY 700
IPGWVVNGEI EANPPRPEID EDTQTTLEDF SRTASGGAFV VSQVPSLPLP 750
DQYPPSQITD LDATVHEDKI ILTWTAPGDN FDVGKVQRYI IRISASILDL 800
RDSFDDALQV NTTDLSPKEA NSKESFAFKP ENISEENATH IFIAIKSIDK 850
SNLTSKVSNI AQVTLFIPQA NPDDIDPTPT PTPTPTPDKS HNSGVNISTL 900
VLSVIGSVVI VNFILSTTI 919
Length:919
Mass (Da):101,283
Last modified:July 22, 2008 - v2
Checksum:i47C0DF125A319810
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431P → S.
Corresponds to variant rs2231580 [ dbSNP | Ensembl ].
VAR_045816
Natural varianti443 – 4431D → V.
Corresponds to variant rs2839932 [ dbSNP | Ensembl ].
VAR_045817
Natural varianti449 – 4491M → L.
Corresponds to variant rs1011048 [ dbSNP | Ensembl ].
VAR_045818
Natural varianti810 – 8101V → L.1 Publication
Corresponds to variant rs2231604 [ dbSNP | Ensembl ].
VAR_045819
Natural varianti877 – 8782Missing.
VAR_045820

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti303 – 3031S → R in AAD48398. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF127035 mRNA. Translation: AAD48398.1.
AY358470 mRNA. Translation: AAQ88834.1.
AL122002 Genomic DNA. Translation: CAI22170.1.
BC113687 mRNA. Translation: AAI13688.1.
BC113689 mRNA. Translation: AAI13690.1.
CCDSiCCDS41355.1.
RefSeqiNP_036260.2. NM_012128.3.
UniGeneiHs.567422.

Genome annotation databases

EnsembliENST00000370563; ENSP00000359594; ENSG00000016602.
GeneIDi22802.
KEGGihsa:22802.
UCSCiuc009wcs.3. human.

Polymorphism databases

DMDMi205831469.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF127035 mRNA. Translation: AAD48398.1 .
AY358470 mRNA. Translation: AAQ88834.1 .
AL122002 Genomic DNA. Translation: CAI22170.1 .
BC113687 mRNA. Translation: AAI13688.1 .
BC113689 mRNA. Translation: AAI13690.1 .
CCDSi CCDS41355.1.
RefSeqi NP_036260.2. NM_012128.3.
UniGenei Hs.567422.

3D structure databases

ProteinModelPortali Q14CN2.
SMRi Q14CN2. Positions 303-439.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000359594.

Chemistry

ChEMBLi CHEMBL2364708.

Protein family/group databases

MEROPSi M87.002.
TCDBi 1.A.13.1.2. the epithelial chloride channel (e-clc) family.

Polymorphism databases

DMDMi 205831469.

Proteomic databases

PaxDbi Q14CN2.
PRIDEi Q14CN2.

Protocols and materials databases

DNASUi 22802.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370563 ; ENSP00000359594 ; ENSG00000016602 .
GeneIDi 22802.
KEGGi hsa:22802.
UCSCi uc009wcs.3. human.

Organism-specific databases

CTDi 22802.
GeneCardsi GC01P087012.
H-InvDB HIX0000752.
HGNCi HGNC:2018. CLCA4.
HPAi HPA017045.
neXtProti NX_Q14CN2.
Orphaneti 586. Cystic fibrosis.
PharmGKBi PA26545.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42884.
HOGENOMi HOG000015107.
HOVERGENi HBG005560.
KOi K05030.
OMAi PWMNDTV.
OrthoDBi EOG78WKR1.
PhylomeDBi Q14CN2.
TreeFami TF328396.

Miscellaneous databases

GeneWikii CLCA4.
GenomeRNAii 22802.
NextBioi 43156.
PROi Q14CN2.

Gene expression databases

ArrayExpressi Q14CN2.
Bgeei Q14CN2.
CleanExi HS_CLCA4.
Genevestigatori Q14CN2.

Family and domain databases

Gene3Di 3.40.50.410. 1 hit.
InterProi IPR004727. CaCC_prot.
IPR013642. Cl_channel_Ca.
IPR015394. DUF1973.
IPR002035. VWF_A.
[Graphical view ]
Pfami PF08434. CLCA_N. 1 hit.
PF09315. DUF1973. 1 hit.
[Graphical view ]
SMARTi SM00327. VWA. 1 hit.
[Graphical view ]
SUPFAMi SSF53300. SSF53300. 1 hit.
TIGRFAMsi TIGR00868. hCaCC. 1 hit.
PROSITEi PS50234. VWFA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of three novel members of the calcium-dependent chloride channel (CaCC) family predominantly expressed in the digestive tract and trachea."
    Agnel M., Vermat T., Culouscou J.-M.
    FEBS Lett. 455:295-301(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT 877-PRO-THR-878 DEL, TISSUE SPECIFICITY.
    Tissue: Colon.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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], VARIANTS LEU-810 AND 877-PRO-THR-878 DEL.
  5. "The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis."
    Ritzka M., Stanke F., Jansen S., Gruber A.D., Pusch L., Woelfl S., Veeze H.J., Halley D.J., Tummler B.
    Hum. Genet. 115:483-491(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  6. "Expression and distribution of ion transport mRNAs in human nasal mucosa and nasal polyps."
    Lee S.H., Park J.H., Jung H.H., Lee S.H., Oh J.W., Lee H.M., Jun H.S., Cho W.J., Lee J.Y.
    Acta Oto-Laryngol. 125:745-752(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry."
    Ramachandran P., Boontheung P., Xie Y., Sondej M., Wong D.T., Loo J.A.
    J. Proteome Res. 5:1493-1503(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-811.
    Tissue: Saliva.
  8. "Transcriptomic dissection of tongue squamous cell carcinoma."
    Ye H., Yu T., Temam S., Ziober B.L., Wang J., Schwartz J.L., Mao L., Wong D.T., Zhou X.
    BMC Genomics 9:69-69(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.

Entry informationi

Entry nameiCLCA4_HUMAN
AccessioniPrimary (citable) accession number: Q14CN2
Secondary accession number(s): Q6UX81, Q9UNF7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: September 3, 2014
This is version 72 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 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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