Q8TC56 (FA71B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM71B

Gene names

Name:	FAM71B
ORF Names:	HSD-51, HSD51

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	605 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in RNA biogenesis. Ref.4
Subunit structure	Interacts with FRG1. Ref.4
Subcellular location	Nucleus. Note: Cajal body and speckle localization. Ref.4
Sequence similarities	Belongs to the FAM71 family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 605	605	Protein FAM71B		PRO_0000285643
Regions
	Motif	441 – 458	18	Bipartite nuclear localization signal Potential
	Compositional bias	225 – 317	93	Ala-rich
Natural variations
	Natural variant	543	1	A → V. Ref.3 Corresponds to variant rs17852327 [ dbSNP | Ensembl ].		VAR_032036
	Natural variant	564	1	M → T. Ref.1 Ref.3 Corresponds to variant rs31208 [ dbSNP | Ensembl ].		VAR_032037
	Natural variant	599	1	V → I. Corresponds to variant rs2115480 [ dbSNP | Ensembl ].		VAR_032038
Experimental info
	Sequence conflict	280	1	T → A in AAY41236. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8TC56 [UniParc]. Last modified May 1, 2007. Version 2. Checksum: 84BF94215309E38A	FASTA	605	64,756
	10 20 30 40 50 60 MSNESCLPYY TAHSYSSMSA FKTSMGDLQR QLYNRGEYNI FKYAPMFESN FIQINKKGEV 70 80 90 100 110 120 IDVHNRVRMV TVGIVCTSPI LPLPDVMVLA QPTKICEQHV RWGRFAKGRG RRPVKTLELT 130 140 150 160 170 180 RLLPLKFVKI SIHDHEKQQL RLKLATGRTF YLQLCPSSDT REDLFCYWEK LVYLLRPPVE 190 200 210 220 230 240 SYCSTPTLLS GDAPPEDNKS LVAAELHREG DQSETGLYKP CDVSAATSSA YAGGEGIQHA 250 260 270 280 290 300 SHGTASAASP STSTPGAAEG GAARTAGGMA VAGTATGPRT DVAIAGAAMS PATGAMSIAT 310 320 330 340 350 360 TKSAGPGQVT TALAGAAIKN PGENESSKSM AGAANISSEG ISLALVGAAS TSLEGTSTSM 370 380 390 400 410 420 AGAASLSQDS SLSAAFAGSI TTSKCAAERT EGPAVGPLIS TLQSEGYMSE RDGSQKVSQP 430 440 450 460 470 480 SAEVWNENKE RREKKDRHPS RKSSHHRKAG ESHRRRAGDK NQKASSHRSA SGHKNTRDDK 490 500 510 520 530 540 KEKGYSNVRG KRHGSSRKSS THSSTKKESR TTQELGKNQS ASSTGALQKK ASKISSFLRS 550 560 570 580 590 600 LRATPGSKTR VTSHDREVDI VAKMVEKQNI EAKVEKAQGG QELEMISGTM TSEKTEMIVF ETKSI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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], VARIANT THR-564. Tissue: Testis.
[2]	"A new spermatogenesis-related gene." Wang Y., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[3]	"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], VARIANTS VAL-543 AND THR-564. Tissue: Testis.
[4]	"FRG1P-mediated aggregation of proteins involved in pre-mRNA processing." van Koningsbruggen S., Straasheijm K.R., Sterrenburg E., de Graaf N., Dauwerse H.G., Frants R.R., van der Maarel S.M. Chromosoma 116:53-64(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FRG1.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK057543 mRNA. Translation: BAB71526.1. AY973323 mRNA. Translation: AAY41236.1. BC022035 mRNA. Translation: AAH22035.1. BC025397 mRNA. Translation: AAH25397.1. BC025409 mRNA. Translation: AAH25409.1. BC025998 mRNA. Translation: AAH25998.1.
IPI	IPI00382867.
RefSeq	NP_570969.2. NM_130899.2.
UniGene	Hs.666099.
3D structure databases
ProteinModelPortal	Q8TC56.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000305596.
PTM databases
PhosphoSite	Q8TC56.
Polymorphism databases
DMDM	146286168.
Proteomic databases
PaxDb	Q8TC56.
PRIDE	Q8TC56.
Protocols and materials databases
DNASU	153745.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302938; ENSP00000305596; ENSG00000170613.
GeneID	153745.
KEGG	hsa:153745.
UCSC	uc003lwn.3. human.
Organism-specific databases
CTD	153745.
GeneCards	GC05M156589.
H-InvDB	HIX0005354.
HGNC	HGNC:28397. FAM71B.
HPA	HPA039478. HPA040771.
neXtProt	NX_Q8TC56.
PharmGKB	PA142671832.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG28184.
HOGENOM	HOG000290696.
HOVERGEN	HBG058004.
InParanoid	Q8TC56.
OMA	VFNTSMG.
OrthoDB	EOG418BPS.
PhylomeDB	Q8TC56.
Gene expression databases
Bgee	Q8TC56.
CleanEx	HS_FAM71B.
Genevestigator	Q8TC56.
Family and domain databases
InterPro	IPR022168. DUF3699. [Graphical view]
Pfam	PF12480. DUF3699. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	153745.
NextBio	87175.

Entry information

Entry name

FA71B_HUMAN

Accession

Primary (citable) accession number: Q8TC56
Secondary accession number(s): Q1EDD9, Q8TC64, Q96LY8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	May 1, 2007
Last modified:	April 3, 2013
This is version 66 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.