CAHM6_HUMAN
ID CAHM6_HUMAN Reviewed; 315 AA.
AC Q5R3K3; B9EJB0; Q5R3K4;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Calcium homeostasis modulator protein 6;
DE AltName: Full=Protein FAM26F;
GN Name=CALHM6 {ECO:0000312|HGNC:HGNC:33391}; Synonyms=C6orf187, FAM26F;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ALA-100.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-100.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Pore-forming subunit of a voltage-gated ion channel.
CC {ECO:0000250|UniProtKB:Q8IU99}.
CC -!- INTERACTION:
CC Q5R3K3; Q8N350-4: CBARP; NbExp=3; IntAct=EBI-19051471, EBI-19051169;
CC Q5R3K3; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-19051471, EBI-18053395;
CC Q5R3K3; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-19051471, EBI-10266796;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5R3K3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5R3K3-2; Sequence=VSP_055698, VSP_055699;
CC -!- SIMILARITY: Belongs to the CALHM family. {ECO:0000305}.
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DR EMBL; Z84488; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48228.1; -; Genomic_DNA.
DR EMBL; BC146842; AAI46843.1; -; mRNA.
DR CCDS; CCDS34519.1; -. [Q5R3K3-1]
DR CCDS; CCDS64506.1; -. [Q5R3K3-2]
DR RefSeq; NP_001010919.1; NM_001010919.2. [Q5R3K3-1]
DR RefSeq; NP_001263389.1; NM_001276460.1. [Q5R3K3-2]
DR RefSeq; XP_005267056.1; XM_005266999.3. [Q5R3K3-1]
DR PDB; 6YTV; EM; 4.39 A; A/B/C/D/E/F/G/H/I/J=1-315.
DR PDB; 6YTX; EM; 6.23 A; A/B/C/D/E/F/G/H/I/J/K=1-315.
DR PDBsum; 6YTV; -.
DR PDBsum; 6YTX; -.
DR AlphaFoldDB; Q5R3K3; -.
DR SMR; Q5R3K3; -.
DR BioGRID; 137226; 3.
DR IntAct; Q5R3K3; 3.
DR STRING; 9606.ENSP00000357594; -.
DR TCDB; 1.A.84.1.6; the calcium homeostasis modulator ca(2+) channel (calhm-c) family.
DR iPTMnet; Q5R3K3; -.
DR PhosphoSitePlus; Q5R3K3; -.
DR BioMuta; CALHM6; -.
DR DMDM; 74755904; -.
DR jPOST; Q5R3K3; -.
DR MassIVE; Q5R3K3; -.
DR PaxDb; Q5R3K3; -.
DR PeptideAtlas; Q5R3K3; -.
DR PRIDE; Q5R3K3; -.
DR ProteomicsDB; 63728; -. [Q5R3K3-1]
DR ProteomicsDB; 63729; -.
DR Antibodypedia; 19421; 37 antibodies from 17 providers.
DR DNASU; 441168; -.
DR Ensembl; ENST00000368605.3; ENSP00000357594.1; ENSG00000188820.13. [Q5R3K3-1]
DR Ensembl; ENST00000368606.7; ENSP00000357595.3; ENSG00000188820.13. [Q5R3K3-2]
DR GeneID; 441168; -.
DR KEGG; hsa:441168; -.
DR MANE-Select; ENST00000368605.3; ENSP00000357594.1; NM_001010919.3; NP_001010919.1.
DR UCSC; uc003pwv.5; human. [Q5R3K3-1]
DR CTD; 441168; -.
DR DisGeNET; 441168; -.
DR GeneCards; CALHM6; -.
DR HGNC; HGNC:33391; CALHM6.
DR HPA; ENSG00000188820; Tissue enhanced (lymphoid).
DR neXtProt; NX_Q5R3K3; -.
DR OpenTargets; ENSG00000188820; -.
DR PharmGKB; PA162387644; -.
DR VEuPathDB; HostDB:ENSG00000188820; -.
DR eggNOG; ENOG502QSG7; Eukaryota.
DR GeneTree; ENSGT01030000234610; -.
DR HOGENOM; CLU_141357_0_0_1; -.
DR InParanoid; Q5R3K3; -.
DR OMA; AVVFQCP; -.
DR OrthoDB; 1039097at2759; -.
DR PhylomeDB; Q5R3K3; -.
DR TreeFam; TF329085; -.
DR PathwayCommons; Q5R3K3; -.
DR SignaLink; Q5R3K3; -.
DR BioGRID-ORCS; 441168; 8 hits in 1062 CRISPR screens.
DR ChiTaRS; FAM26F; human.
DR GenomeRNAi; 441168; -.
DR Pharos; Q5R3K3; Tdark.
DR PRO; PR:Q5R3K3; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5R3K3; protein.
DR Bgee; ENSG00000188820; Expressed in spleen and 99 other tissues.
DR ExpressionAtlas; Q5R3K3; baseline and differential.
DR Genevisible; Q5R3K3; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005261; F:cation channel activity; IBA:GO_Central.
DR InterPro; IPR029569; CALHM.
DR InterPro; IPR029573; CALHM6.
DR PANTHER; PTHR32261; PTHR32261; 1.
DR PANTHER; PTHR32261:SF4; PTHR32261:SF4; 1.
DR Pfam; PF14798; Ca_hom_mod; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Ion channel; Ion transport; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..315
FT /note="Calcium homeostasis modulator protein 6"
FT /id="PRO_0000283781"
FT TRANSMEM 19..39
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 52..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 104..124
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..172
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_055698"
FT VAR_SEQ 173..175
FT /note="QSQ -> MFP (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_055699"
FT VARIANT 80
FT /note="G -> R (in dbSNP:rs1057192)"
FT /id="VAR_053085"
FT VARIANT 100
FT /note="T -> A (in dbSNP:rs10784)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_071081"
FT VARIANT 293
FT /note="E -> K (in dbSNP:rs11544160)"
FT /id="VAR_053086"
SQ SEQUENCE 315 AA; 34458 MW; 40059D0CD2D811E7 CRC64;
MEKFRAVLDL HVKHHSALGY GLVTLLTAGG ERIFSAVAFQ CPCSAAWNLP YGLVFLLVPA
LALFLLGYVL SARTWRLLTG CCSSARASCG SALRGSLVCT QISAAAALAP LTWVAVALLG
GAFYECAATG SAAFAQRLCL GRNRSCAAEL PLVPCNQAKA SDVQDLLKDL KAQSQVLGWI
LIAVVIIILL IFTSVTRCLS PVSFLQLKFW KIYLEQEQQI LKSKATEHAT ELAKENIKCF
FEGSHPKEYN TPSMKEWQQI SSLYTFNPKG QYYSMLHKYV NRKEKTHSIR STEGDTVIPV
LGFVDSSGIN STPEL
