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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

HGNCiHGNC:34343. FAM47E.

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiFAM47E.
DMDMi327478584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 393393Protein FAM47EPRO_0000326074Add
BLAST

Proteomic databases

PaxDbiQ6ZV65.
PRIDEiQ6ZV65.

Expressioni

Gene expression databases

BgeeiQ6ZV65.
ExpressionAtlasiQ6ZV65. baseline and differential.

Organism-specific databases

HPAiHPA053331.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000409423.

Structurei

3D structure databases

ProteinModelPortaliQ6ZV65.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili326 – 35429Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the FAM47 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IID3. Eukaryota.
ENOG410XRNG. LUCA.
GeneTreeiENSGT00400000022396.
HOGENOMiHOG000112475.
HOVERGENiHBG076577.
InParanoidiQ6ZV65.
OMAiKERKCEC.
OrthoDBiEOG7DC24H.
PhylomeDBiQ6ZV65.
TreeFamiTF340932.

Family and domain databases

InterProiIPR032743. FAM47.
[Graphical view]
PfamiPF14642. FAM47. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti273 – 2731E → K in BAC85998 (PubMed:14702039).Curated
Sequence conflicti366 – 3661T → M in BAC85998 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 113113Missing in isoform 2. 1 PublicationVSP_040931Add
BLAST
Alternative sequencei114 – 14027FLEDV…AMPIE → MQMSVPCVLSSLQNHEPNKP LFTTQSQ in isoform 2. 1 PublicationVSP_040932Add
BLAST
Alternative sequencei223 – 2231N → NVCKAVSDFCKWVTTF in isoform 2. 1 PublicationVSP_040933
Alternative sequencei343 – 39351EELLA…KRTQA → SIFKKAMDI in isoform 3. 1 PublicationVSP_040934Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ6ZV65.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000409423.

Polymorphism and mutation databases

BioMutaiFAM47E.
DMDMi327478584.

Proteomic databases

PaxDbiQ6ZV65.
PRIDEiQ6ZV65.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi100129583.
100631383.
GeneCardsiFAM47E.
HGNCiHGNC:34343. FAM47E.
HPAiHPA053331.
neXtProtiNX_Q6ZV65.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IID3. Eukaryota.
ENOG410XRNG. LUCA.
GeneTreeiENSGT00400000022396.
HOGENOMiHOG000112475.
HOVERGENiHBG076577.
InParanoidiQ6ZV65.
OMAiKERKCEC.
OrthoDBiEOG7DC24H.
PhylomeDBiQ6ZV65.
TreeFamiTF340932.

Miscellaneous databases

NextBioi20772250.
PROiQ6ZV65.

Gene expression databases

BgeeiQ6ZV65.
ExpressionAtlasiQ6ZV65. baseline and differential.

Family and domain databases

InterProiIPR032743. FAM47.
[Graphical view]
PfamiPF14642. FAM47. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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] (ISOFORMS 1 AND 2).
    Tissue: Subthalamic nucleus and Tongue.
  2. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Placenta.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiFA47E_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV65
Secondary accession number(s): D6R8Y4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: April 5, 2011
Last modified: March 16, 2016
This is version 80 of the entry and version 3 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. 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.