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Protein

EF-hand calcium-binding domain-containing protein 7

Gene

EFCAB7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi416 – 427123PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5635838. Activation of SMO.

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 7
Gene namesi
Name:EFCAB7
Synonyms:KIAA1799
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29379. EFCAB7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162384389.

Polymorphism and mutation databases

BioMutaiEFCAB7.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 629629EF-hand calcium-binding domain-containing protein 7PRO_0000317266Add
BLAST

Proteomic databases

MaxQBiA8K855.
PaxDbiA8K855.
PRIDEiA8K855.

PTM databases

iPTMnetiA8K855.
PhosphoSiteiA8K855.

Expressioni

Gene expression databases

BgeeiA8K855.
CleanExiHS_EFCAB7.
GenevisibleiA8K855. HS.

Organism-specific databases

HPAiHPA029611.
HPA029612.
HPA029613.

Interactioni

Protein-protein interaction databases

BioGridi124090. 6 interactions.
STRINGi9606.ENSP00000360129.

Structurei

3D structure databases

ProteinModelPortaliA8K855.
SMRiA8K855. Positions 14-168, 407-467.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini102 – 13736EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini138 – 17336EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini403 – 43836EF-hand 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00390000015466.
HOGENOMiHOG000007278.
HOVERGENiHBG061161.
InParanoidiA8K855.
OMAiKFCKLYM.
OrthoDBiEOG7PP56B.
PhylomeDBiA8K855.
TreeFamiTF329354.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A8K855-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAISPRSDAT FSSQKSTPSE SPRTKKFPLT EEEIFYMNCR AAYLTVFKSS
60 70 80 90 100
LENIISKDQL YLALQHAGRN PSQKTINKYW TPQTAKLNFD DFCIILRKEK
110 120 130 140 150
PTSKAELLKS FKQLDVNDDG CILHTDLYKF LTKRGEKMTR EEVNAIINLA
160 170 180 190 200
DVNADGKFDY IKFCKLYMTT NEQCLKTTLE KLEVDSKLMR HQFGNHIEGS
210 220 230 240 250
PERDPSPVPK PSPKITRKTD PETFLNKGDT RSSLLSATRK FKTSVSFTVT
260 270 280 290 300
MGANGNRNSK LMEPNLIKDW QHMQSKGCFF LEEDGEIISH QYRMQIAQRS
310 320 330 340 350
MVYLTIKPLN LSQVEGKPSP WLSVDTALYI LKENESQANL QLVCFTELRN
360 370 380 390 400
REVFGWTGEL GPGIYWLIPS TTGCRLRKKI KPVTDEAQLV YRDETGELFL
410 420 430 440 450
TKEFKSTLSD IFEVIDLDGN GLLSLEEYNF FELRTSGEKC DEDAWAVCRE
460 470 480 490 500
NFDTKRNELT RQGFMDLNLM EANDREGDPC DLWVTLHSMG YNKALELTEA
510 520 530 540 550
CPFVIDIYAE KCKPKIKAVH MEACSGQLEK AICKSVLSNG DAKVMDGYEN
560 570 580 590 600
IIVHTYSCDT WITSVIENKS DEKVIIHISN ELSKNCINNR GLNIFAVEVG
610 620
PKSTMVCQHV MPLNERQEWI YYCIYSLIS
Length:629
Mass (Da):71,981
Last modified:February 5, 2008 - v1
Checksum:i0C91918C36D7E0B8
GO
Isoform 2 (identifier: A8K855-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     606-629: VCQHVMPLNERQEWIYYCIYSLIS → P

Note: No experimental confirmation available.
Show »
Length:606
Mass (Da):69,108
Checksum:i5B45F56F35DC0A17
GO

Sequence cautioni

The sequence BAB47428.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271F → I.
Corresponds to variant rs17125106 [ dbSNP | Ensembl ].
VAR_038493
Natural varianti186 – 1861S → G.
Corresponds to variant rs9436246 [ dbSNP | Ensembl ].
VAR_038494
Natural varianti248 – 2481T → I.1 Publication
Corresponds to variant rs6693255 [ dbSNP | Ensembl ].
VAR_038495
Natural varianti262 – 2621M → T.1 Publication
Corresponds to variant rs6657480 [ dbSNP | Ensembl ].
VAR_038496
Natural varianti375 – 3751R → K.2 Publications
Corresponds to variant rs2273367 [ dbSNP | Ensembl ].
VAR_038497

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei606 – 62924VCQHV…YSLIS → P in isoform 2. 1 PublicationVSP_030930Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058702 mRNA. Translation: BAB47428.1. Different initiation.
AK292220 mRNA. Translation: BAF84909.1.
AK315850 mRNA. Translation: BAF98741.1.
AL109925, BX004807 Genomic DNA. Translation: CAB92087.1.
BX004807, AL109925 Genomic DNA. Translation: CAI15774.1.
CH471059 Genomic DNA. Translation: EAX06570.1.
BC015814 mRNA. Translation: AAH15814.1.
AL833720 mRNA. Translation: CAH56237.1.
CCDSiCCDS30737.1. [A8K855-1]
RefSeqiNP_115813.2. NM_032437.3. [A8K855-1]
XP_005271331.1. XM_005271274.2. [A8K855-2]
XP_006711040.1. XM_006710977.1. [A8K855-1]
UniGeneiHs.652324.

Genome annotation databases

EnsembliENST00000371088; ENSP00000360129; ENSG00000203965. [A8K855-1]
GeneIDi84455.
KEGGihsa:84455.
UCSCiuc001dbf.4. human. [A8K855-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058702 mRNA. Translation: BAB47428.1. Different initiation.
AK292220 mRNA. Translation: BAF84909.1.
AK315850 mRNA. Translation: BAF98741.1.
AL109925, BX004807 Genomic DNA. Translation: CAB92087.1.
BX004807, AL109925 Genomic DNA. Translation: CAI15774.1.
CH471059 Genomic DNA. Translation: EAX06570.1.
BC015814 mRNA. Translation: AAH15814.1.
AL833720 mRNA. Translation: CAH56237.1.
CCDSiCCDS30737.1. [A8K855-1]
RefSeqiNP_115813.2. NM_032437.3. [A8K855-1]
XP_005271331.1. XM_005271274.2. [A8K855-2]
XP_006711040.1. XM_006710977.1. [A8K855-1]
UniGeneiHs.652324.

3D structure databases

ProteinModelPortaliA8K855.
SMRiA8K855. Positions 14-168, 407-467.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124090. 6 interactions.
STRINGi9606.ENSP00000360129.

PTM databases

iPTMnetiA8K855.
PhosphoSiteiA8K855.

Polymorphism and mutation databases

BioMutaiEFCAB7.

Proteomic databases

MaxQBiA8K855.
PaxDbiA8K855.
PRIDEiA8K855.

Protocols and materials databases

DNASUi84455.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371088; ENSP00000360129; ENSG00000203965. [A8K855-1]
GeneIDi84455.
KEGGihsa:84455.
UCSCiuc001dbf.4. human. [A8K855-1]

Organism-specific databases

CTDi84455.
GeneCardsiEFCAB7.
H-InvDBHIX0000663.
HGNCiHGNC:29379. EFCAB7.
HPAiHPA029611.
HPA029612.
HPA029613.
neXtProtiNX_A8K855.
PharmGKBiPA162384389.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00390000015466.
HOGENOMiHOG000007278.
HOVERGENiHBG061161.
InParanoidiA8K855.
OMAiKFCKLYM.
OrthoDBiEOG7PP56B.
PhylomeDBiA8K855.
TreeFamiTF329354.

Enzyme and pathway databases

ReactomeiR-HSA-5635838. Activation of SMO.

Miscellaneous databases

GenomeRNAii84455.
PROiA8K855.

Gene expression databases

BgeeiA8K855.
CleanExiHS_EFCAB7.
GenevisibleiA8K855. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Esophagus and Kidney.
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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 1), VARIANTS ILE-248; THR-262 AND LYS-375.
    Tissue: Skin.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 353-629, VARIANT LYS-375.
    Tissue: Stomach.

Entry informationi

Entry nameiEFCB7_HUMAN
AccessioniPrimary (citable) accession number: A8K855
Secondary accession number(s): Q658P0, Q96B95, Q96JM6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 5, 2008
Last modified: June 8, 2016
This is version 75 of the entry and version 1 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.