EFC13_HUMAN
ID EFC13_HUMAN Reviewed; 973 AA.
AC Q8IY85; G3V128; Q49AG9;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 13;
GN Name=EFCAB13; Synonyms=C17orf57;
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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] (ISOFORMS 1 AND 2), AND VARIANTS
RP ILE-312 AND VAL-617.
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).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] HIS-286.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IY85-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IY85-2; Sequence=VSP_047187, VSP_047188, VSP_047189;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH37876.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AC040934; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC068234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471231; EAW57672.1; -; Genomic_DNA.
DR EMBL; BC036407; AAH36407.1; -; mRNA.
DR EMBL; BC037876; AAH37876.1; ALT_FRAME; mRNA.
DR CCDS; CCDS11512.1; -. [Q8IY85-1]
DR CCDS; CCDS56034.1; -. [Q8IY85-2]
DR RefSeq; NP_001182121.1; NM_001195192.1. [Q8IY85-2]
DR RefSeq; NP_689560.3; NM_152347.4. [Q8IY85-1]
DR AlphaFoldDB; Q8IY85; -.
DR BioGRID; 125909; 7.
DR STRING; 9606.ENSP00000332111; -.
DR GlyGen; Q8IY85; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IY85; -.
DR PhosphoSitePlus; Q8IY85; -.
DR BioMuta; EFCAB13; -.
DR DMDM; 134034056; -.
DR MassIVE; Q8IY85; -.
DR PaxDb; Q8IY85; -.
DR PeptideAtlas; Q8IY85; -.
DR PRIDE; Q8IY85; -.
DR Antibodypedia; 17742; 93 antibodies from 18 providers.
DR DNASU; 124989; -.
DR Ensembl; ENST00000331493.7; ENSP00000332111.2; ENSG00000178852.16. [Q8IY85-1]
DR Ensembl; ENST00000517484.5; ENSP00000430048.1; ENSG00000178852.16. [Q8IY85-2]
DR GeneID; 124989; -.
DR KEGG; hsa:124989; -.
DR MANE-Select; ENST00000331493.7; ENSP00000332111.2; NM_152347.5; NP_689560.3.
DR UCSC; uc002ilm.4; human. [Q8IY85-1]
DR CTD; 124989; -.
DR DisGeNET; 124989; -.
DR GeneCards; EFCAB13; -.
DR HGNC; HGNC:26864; EFCAB13.
DR HPA; ENSG00000178852; Tissue enhanced (testis).
DR neXtProt; NX_Q8IY85; -.
DR OpenTargets; ENSG00000178852; -.
DR PharmGKB; PA142672240; -.
DR VEuPathDB; HostDB:ENSG00000178852; -.
DR eggNOG; KOG0027; Eukaryota.
DR GeneTree; ENSGT00390000004027; -.
DR HOGENOM; CLU_009168_0_0_1; -.
DR InParanoid; Q8IY85; -.
DR OMA; KHTYIDS; -.
DR OrthoDB; 222861at2759; -.
DR PhylomeDB; Q8IY85; -.
DR TreeFam; TF337478; -.
DR PathwayCommons; Q8IY85; -.
DR BioGRID-ORCS; 124989; 6 hits in 1064 CRISPR screens.
DR ChiTaRS; EFCAB13; human.
DR GenomeRNAi; 124989; -.
DR Pharos; Q8IY85; Tdark.
DR PRO; PR:Q8IY85; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8IY85; protein.
DR Bgee; ENSG00000178852; Expressed in sperm and 101 other tissues.
DR ExpressionAtlas; Q8IY85; baseline and differential.
DR Genevisible; Q8IY85; HS.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR SUPFAM; SSF47473; SSF47473; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Reference proteome; Repeat.
FT CHAIN 1..973
FT /note="EF-hand calcium-binding domain-containing protein
FT 13"
FT /id="PRO_0000281110"
FT DOMAIN 488..523
FT /note="EF-hand 1"
FT DOMAIN 524..559
FT /note="EF-hand 2"
FT DOMAIN 633..668
FT /note="EF-hand 3"
FT DOMAIN 756..791
FT /note="EF-hand 4"
FT DOMAIN 792..827
FT /note="EF-hand 5"
FT DOMAIN 864..899
FT /note="EF-hand 6"
FT REGION 384..448
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 389..406
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 407..426
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 173..269
FT /note="ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQD
FT ALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS -> G (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_047187"
FT VAR_SEQ 880
FT /note="E -> G (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_047188"
FT VAR_SEQ 881..973
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_047189"
FT VARIANT 279
FT /note="I -> V (in dbSNP:rs55853213)"
FT /id="VAR_061091"
FT VARIANT 286
FT /note="Q -> H (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035465"
FT VARIANT 312
FT /note="V -> I (in dbSNP:rs4968318)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031228"
FT VARIANT 617
FT /note="M -> V (in dbSNP:rs17855599)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031229"
SQ SEQUENCE 973 AA; 110129 MW; D46091F56D7DE1A9 CRC64;
METKVHLFCQ AEENIDLLDD GSNSFATDLS SGTINHKKYI KFSKTIEKEI SPEIRSLSPE
YKKIFETSII FCGEEKSSDF SGEKKVGRKS LQVQQHSKRT EIIPPFLKLS KEKVTRKENS
LCKLPNQYSV HKTSSPLCTS SAITREKEML SNLYMTLYDE VTHGYLHSKE LSALHKACKI
FSKIRSGKIY VNDLPVILCI LRISISDLEM RQALKTVDID AFQDALKIFC RIKGGRVSTD
DVFAVLDSMG IPINREILEE VTKHTYIDSN HMVDIGDIIF TLNELQEQYE DVSITEGSPL
NEITSDRKLS SVAGCYLKYK KKNSLSSKLP EPSISKKLNK KSNQYYSKIM ENDDLESKRP
KNTWQIRKFL GGVGSSNVGV QEPYSKNGIN FKKHSEKGEI HDSKSKPQSL KSSTSLSKSL
DKSDISSIPK LQKPAVRKHS SLQKQVSSTE KTAISTLENF CEAISKLQEN YIAAEELQSI
LPSTGINLLD EEFQKIVTDT SRNENGMVEL DDFVNALAKE RSFPECNALP GVIKAIDKIK
DKNVDYEDLN TCLQNFGIYL SKPEFKKITE LTEAGETKKV NFKEFIDTMM SNTECFSEKL
VLPDAIETLD DLRKETMSVS DLWNTLSSLN SNLKKDEFLA ALELVTVDEG DKVQFEEFAK
VVRNMRDAAR LEELQEVVLA ADLLEGDMIA GKNLEDFLRN VGIKSPKEEV EKILQSDFVS
EDNMVNIKDC MRALRDTQKF SNYIDFRKEA SNLKLPKVNE IKEAANILSH VDNGKIGIPD
LEHALKCLNV NLTEEDFNEA LNCCNVSDNM EVDLKDFLMK MKESPHFQKS KATQILLATT
QILQNDLVDV SDLKTLLMDK DLHTANAILT VMLRHVPEHE SGKVSIQEFM TKLSDILTIP
KAAGKFYLIC TYCPDLERQA VVYMLKTIQD SIVKAQVSKK QYNMNIKQHK ISLHNFCLNS
KANIAKLNPN SKF
