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Protein

Protein FAM47E

Gene

FAM47E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM47E
Gene namesi
Name:FAM47E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000189157.13.
HGNCiHGNC:34343. FAM47E.

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

DisGeNETi100129583.
100631383.
OpenTargetsiENSG00000189157.
ENSG00000272414.

Polymorphism and mutation databases

BioMutaiFAM47E.
DMDMi327478584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003260741 – 393Protein FAM47EAdd BLAST393

Proteomic databases

PaxDbiQ6ZV65.
PRIDEiQ6ZV65.

Expressioni

Gene expression databases

BgeeiENSG00000189157.
ExpressionAtlasiQ6ZV65. baseline and differential.

Organism-specific databases

HPAiHPA053331.

Structurei

3D structure databases

ProteinModelPortaliQ6ZV65.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili326 – 354Sequence analysisAdd BLAST29

Sequence similaritiesi

Belongs to the FAM47 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IID3. Eukaryota.
ENOG410XRNG. LUCA.
GeneTreeiENSGT00400000022396.
HOGENOMiHOG000112475.
HOVERGENiHBG076577.
InParanoidiQ6ZV65.
OMAiAQDENFK.
OrthoDBiEOG091G0H8R.
PhylomeDBiQ6ZV65.
TreeFamiTF340932.

Family and domain databases

InterProiView protein in InterPro
IPR032743. FAM47.
PfamiView protein in Pfam
PF14642. FAM47. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZV65-3) [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
MADRRRRLRP GTLAPVREGV NCRSRCFTKH KNGLKFPTSL HSRQLVFPRK
60 70 80 90 100
GLDDFRKGCP PCTGLVTQVP VEGFLPQIYH RAPQLAPKKR QIKLLKEADV
110 120 130 140 150
LSKLSPAQQA RKAFLEDVEA HLTPHPLALY LNLEEAMPIE LLSKVLEVLD
160 170 180 190 200
PDRKLEDTWA YCQDTRKGMK EPTKLLKKHS TQVYLGPSKK TSVSNAGQWL
210 220 230 240 250
YEEKPHKMDL LHENGPRPGL HENGISDIDE EFILKQFDID YETKPSHDAL
260 270 280 290 300
HTMKLNQVPL ELKRSVGLSK LQETEFFQKL GYERKLQKPQ NPYKPKWVKM
310 320 330 340 350
RYGAWYLNPK LWKKQRVDEP LVDPEVSHKA QEENFKKELQ EQEELLADLH
360 370 380 390
GTVAFKDFIL SRGYRTPRFL ENMYIGKECK RACNKTPIKR TQA
Length:393
Mass (Da):45,662
Last modified:April 5, 2011 - v3
Checksum:i0945D3CDA7B471F8
GO
Isoform 2 (identifier: Q6ZV65-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.
     114-140: FLEDVEAHLTPHPLALYLNLEEAMPIE → MQMSVPCVLSSLQNHEPNKPLFTTQSQ
     223-223: N → NVCKAVSDFCKWVTTF

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):34,526
Checksum:iFB51DE1D9CAA904D
GO
Isoform 3 (identifier: Q6ZV65-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-393: EELLADLHGTVAFKDFILSRGYRTPRFLENMYIGKECKRACNKTPIKRTQA → SIFKKAMDI

Show »
Length:351
Mass (Da):40,783
Checksum:iCF13DA4119C9989A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti273E → K in BAC85998 (PubMed:14702039).Curated1
Sequence conflicti366T → M in BAC85998 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0409311 – 113Missing in isoform 2. 1 PublicationAdd BLAST113
Alternative sequenceiVSP_040932114 – 140FLEDV…AMPIE → MQMSVPCVLSSLQNHEPNKP LFTTQSQ in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_040933223N → NVCKAVSDFCKWVTTF in isoform 2. 1 Publication1
Alternative sequenceiVSP_040934343 – 393EELLA…KRTQA → SIFKKAMDI in isoform 3. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092277 mRNA. No translation available.
AK124936 mRNA. Translation: BAC85998.1.
CR591456 mRNA. No translation available.
AC034139 Genomic DNA. No translation available.
CCDSiCCDS47081.1. [Q6ZV65-3]
CCDS58907.1. [Q6ZV65-2]
RefSeqiNP_001130042.1. NM_001136570.2. [Q6ZV65-3]
NP_001229865.1. NM_001242936.1. [Q6ZV65-2]
NP_001229868.1. NM_001242939.1. [Q6ZV65-1]
UniGeneiHs.720509.

Genome annotation databases

EnsembliENST00000424749; ENSP00000409423; ENSG00000189157. [Q6ZV65-3]
ENST00000510197; ENSP00000422262; ENSG00000189157. [Q6ZV65-2]
GeneIDi100129583.
100631383.
KEGGihsa:100129583.
hsa:100631383.
UCSCiuc003hjv.4. human. [Q6ZV65-3]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiFA47E_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV65
Secondary accession number(s): D6R8Y4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: April 5, 2011
Last modified: September 27, 2017
This is version 90 of the entry and version 3 of the sequence. See 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families