Q9H503 (BAFL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Barrier-to-autointegration factor-like protein
Short name=BAF-L

Alternative name(s):
Barrier-to-autointegration factor 2

Gene names

Name:	BANF2
Synonyms:	BAFL, C20orf179

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	90 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in BANF1 regulation and influence tissue-specific roles of BANF1.
Subunit structure	Homodimer. Heterodimerizes with BANF1.
Subcellular location	Nucleus. Cytoplasm.
Tissue specificity	Expressed strongly in testis and pancreas. Also detected in brain, colon, liver, lung, ovary, placenta, prostate, small intestine, spleen and thymus. Not detected in heart, kidney and skeletal muscle.
Sequence similarities	Belongs to the BAF family.
Caution	In contrast to BANF1, it does not seems to bind DNA.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 90	90	Barrier-to-autointegration factor-like protein		PRO_0000221030
Natural variations
	Natural variant	3	1	N → D. Ref.2 Corresponds to variant rs4814640 [ dbSNP | Ensembl ].		VAR_024372
	Natural variant	78	1	T → S. Corresponds to variant rs1053993 [ dbSNP | Ensembl ].		VAR_013693

Sequences

	Sequence		Length	Mass (Da)
	Q9H503 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: C7FAB57610ADEF87	FASTA	90	10,309
	10 20 30 40 50 60 MDNMSPRLRA FLSEPIGEKD VCWVDGISHE LAINLVTKGI NKAYILLGQF LLMHKNEAEF 70 80 90 QRWLICCFGA TECEAQQTSH CLKEWCACFL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASP-3.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[4]	"Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of BAF." Tifft K.E., Segura-Totten M., Lee K.K., Wilson K.L. Exp. Cell Res. 312:478-487(2006) [PubMed: 16337940] [Abstract] Cited for: CHARACTERIZATION, INTERACTION WITH BANF1.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL160071 Genomic DNA. Translation: CAC15540.1. CH471133 Genomic DNA. Translation: EAX10271.1. CH471133 Genomic DNA. Translation: EAX10272.1. BC054871 mRNA. Translation: AAH54871.1. BC062735 mRNA. Translation: AAH62735.1.
IPI	IPI00014735.
RefSeq	NP_001014977.2. NM_001014977.3. NP_001152967.1. NM_001159495.1. NP_848572.3. NM_178477.4.
UniGene	Hs.115366.
3D structure databases
ProteinModelPortal	Q9H503.
SMR	Q9H503. Positions 4-90.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H503.
Polymorphism databases
DMDM	22095478.
Proteomic databases
PRIDE	Q9H503.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000246090; ENSP00000246090; ENSG00000125888. ENST00000377805; ENSP00000367036; ENSG00000125888.
GeneID	140836.
KEGG	hsa:140836.
UCSC	uc002wpz.1. human.
Organism-specific databases
CTD	140836.
GeneCards	GC20P017680.
HGNC	HGNC:16172. BANF2.
HPA	HPA042635.
neXtProt	NX_Q9H503.
PharmGKB	PA162377348.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21278.
GeneTree	ENSGT00390000018613.
HOGENOM	HBG381393.
HOVERGEN	HBG029345.
InParanoid	Q9H503.
OMA	CCGATEC.
PhylomeDB	Q9H503.
Gene expression databases
ArrayExpress	Q9H503.
Bgee	Q9H503.
CleanEx	HS_BANF2.
Genevestigator	Q9H503.
GermOnline	ENSG00000125888. Homo sapiens.
Family and domain databases
InterPro	IPR004122. BAF_prot. [Graphical view]
Gene3D	G3DSA:1.10.150.40. BAF_prot. 1 hit.
PANTHER	PTHR12912. BAF_prot. 1 hit.
Pfam	PF02961. BAF. 1 hit. [Graphical view]
ProDom	PD019964. PD019964. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM01023. BAF. 1 hit. [Graphical view]
SUPFAM	SSF47798. BAF_prot. 1 hit.
ProtoNet	Search...
Other
NextBio	84454.

Entry information

Entry name

BAFL_HUMAN

Accession

Primary (citable) accession number: Q9H503
Secondary accession number(s): D3DW25, Q7Z4M6

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	March 1, 2001
Last modified:	January 25, 2012
This is version 77 of the entry and version 1 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.