Q96I51 (WBS16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Williams-Beuren syndrome chromosomal region 16 protein

Alternative name(s):
RCC1-like G exchanging factor-like protein

Gene names

Name:

WBSCR16

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	464 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Ubiquitous. Ref.1
Involvement in disease	Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Sequence similarities	Contains 6 RCC1 repeats.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Williams-Beuren syndrome
Domain	Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 464	464	Williams-Beuren syndrome chromosomal region 16 protein		PRO_0000206656
Regions
	Repeat	129 – 192	64	RCC1 1
	Repeat	193 – 248	56	RCC1 2
	Repeat	249 – 301	53	RCC1 3
	Repeat	302 – 354	53	RCC1 4
	Repeat	355 – 412	58	RCC1 5
	Repeat	413 – 462	50	RCC1 6
Natural variations
	Natural variant	30	1	R → G. Ref.1 Ref.4 Corresponds to variant rs6955671 [ dbSNP | Ensembl ].		VAR_027972

Sequences

	Sequence		Length	Mass (Da)
	Q96I51 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 800F7AD456A9B4EF	FASTA	464	49,997
	10 20 30 40 50 60 MALVALVAGA RLGRRLSGPG LGRGHWTAAR RSRSRREAAE AEAEVPVVQY VGERAARADR 70 80 90 100 110 120 VFVWGFSFSG ALGVPSFVVP SSGPGPRAGA RPRRRIQPVP YRLELDQKIS SAACGYGFTL 130 140 150 160 170 180 LSSKTADVTK VWGMGLNKDS QLGFHRSRKD KTRGYEYVLE PSPVSLPLDR PQETRVLQVS 190 200 210 220 230 240 CGRAHSLVLT DREGVFSMGN NSYGQCGRKV VENEIYSESH RVHRMQDFDG QVVQVACGQD 250 260 270 280 290 300 HSLFLTDKGE VYSCGWGADG QTGLGHYNIT SSPTKLGGDL AGVNVIQVAT YGDCCLAVSA 310 320 330 340 350 360 DGGLFGWGNS EYLQLASVTD STQVNVPRCL HFSGVGKVRQ AACGGTGCAV LNGEGHVFVW 370 380 390 400 410 420 GYGILGKGPN LVESAVPEMI PPTLFGLTEF NPEIQVSRIR CGLSHFAALT NKGELFVWGK 430 440 450 460 NIRGCLGIGR LEDQYFPWRV TMPGEPVDVA CGVDHMVTLA KSFI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of additional transcripts in the Williams-Beuren syndrome critical region." Merla G., Ucla C., Guipponi M., Reymond A. Hum. Genet. 110:429-438(2002) [PubMed: 12073013] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT GLY-30.
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[3]	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].
[4]	"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], VARIANT GLY-30. Tissue: Uterus.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF410455 mRNA. Translation: AAM62304.1. AL136804 mRNA. Translation: CAB66738.1. CH471292 Genomic DNA. Translation: EAW52090.1. CH471292 Genomic DNA. Translation: EAW52091.1. BC007823 mRNA. Translation: AAH07823.1. BC019008 mRNA. Translation: AAH19008.1.
IPI	IPI00305992.
RefSeq	NP_110425.1. NM_030798.3.
UniGene	Hs.723684.
3D structure databases
ProteinModelPortal	Q96I51.
SMR	Q96I51. Positions 2-462.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96I51. 2 interactions.
STRING	Q96I51.
PTM databases
PhosphoSite	Q96I51.
Polymorphism databases
DMDM	116242843.
Proteomic databases
PeptideAtlas	Q96I51.
PRIDE	Q96I51.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329959; ENSP00000333799; ENSG00000174374.
GeneID	81554.
KEGG	hsa:81554.
UCSC	uc003ubr.1. human.
Organism-specific databases
CTD	81554.
GeneCards	GC07M074456.
H-InvDB	HIX0019119.
HGNC	HGNC:14948. WBSCR16.
MIM	194050. phenotype.
neXtProt	NX_Q96I51.
Orphanet	904. Williams syndrome.
PharmGKB	PA37941.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19087.
GeneTree	ENSGT00590000082801.
HOGENOM	HBG281444.
HOVERGEN	HBG054246.
InParanoid	Q96I51.
OMA	QVVCGQD.
OrthoDB	EOG4F1X33.
PhylomeDB	Q96I51.
Gene expression databases
ArrayExpress	Q96I51.
Bgee	Q96I51.
CleanEx	HS_WBSCR16.
Genevestigator	Q96I51.
GermOnline	ENSG00000174374. Homo sapiens.
Family and domain databases
InterPro	IPR000408. Reg_chr_condens. IPR009091. Reg_csome_cond/b-lactamase_inh. [Graphical view]
Gene3D	G3DSA:2.130.10.30. Reg_csome_cond/b-lactamase_inh. 1 hit.
Pfam	PF00415. RCC1. 6 hits. [Graphical view]
PRINTS	PR00633. RCCNDNSATION.
SUPFAM	SSF50985. RCC1/BLIP-II. 1 hit.
PROSITE	PS00625. RCC1_1. False negative. PS00626. RCC1_2. 1 hit. PS50012. RCC1_3. 6 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	71806.
SOURCE	Search...

Entry information

Entry name

WBS16_HUMAN

Accession

Primary (citable) accession number: Q96I51
Secondary accession number(s): D3DXK0, Q548B1, Q9H0G7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 83 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.