Reviewed, UniProtKB/Swiss-Prot Q9H0F7 (ARL6_HUMAN)

Names and origin

Protein names

Recommended name:
    ADP-ribosylation factor-like protein 6
Alternative name(s):
    Bardet-Biedl syndrome 3 protein

Gene names

Name:

ARL6

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	186 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Interacts with SEC61B, ARL6IP1, ARL6IP2, ARL6IP3, ARL6IP4 ARL6IP5 and ARL6IP6 By similarity.
Subcellular location	CytoplasmBy similarity.
Involvement in disease	Defects in ARL6 are a cause of Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease.
Sequence similarities	Belongs to the small GTPase superfamily. Arf family.

Ontologies

Keywords
Cellular component	Cytoplasm
Disease	Bardet-Biedl syndrome Disease mutation
Ligand	GTP-binding Nucleotide-binding
PTM	Lipoprotein Myristate
Technical term	3D-structure
Gene Ontology (GO)
Biological process	cilium biogenesis Inferred from sequence or structural similarity. Source: UniProtKB determination of left/right symmetry Inferred from sequence or structural similarity. Source: UniProtKB melanosome transport Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	protein binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Initiator methionine

1

1

Removed Potential

Chain

2 – 186

185

ADP-ribosylation factor-like protein 6

Regions

Nucleotide binding

24 – 31

8

GTP By similarity

Nucleotide binding

69 – 73

5

GTP By similarity

Nucleotide binding

130 – 133

4

GTP By similarity

Amino acid modifications

Lipidation

2

1

N-myristoyl glycine Potential

Natural variations

Natural variant

31

1

T → M in BBS3.

Natural variant

31

1

T → R in BBS3.

Natural variant

169

1

G → A in BBS3.

Natural variant

170

1

L → W in BBS3.

Secondary structure

1

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186

Helix Strand Turn

Details...

Beta strand

18 – 24

7

Helix

30 – 36

7

Helix

40 – 42

3

Beta strand

51 – 59

9

Beta strand

64 – 70

7

Turn

74 – 76

3

Helix

77 – 86

10

Beta strand

88 – 95

8

Helix

99 – 114

16

Turn

116 – 120

5

Beta strand

125 – 130

6

Helix

140 – 147

8

Helix

149 – 151

3

Beta strand

157 – 161

5

Turn

164 – 167

4

Helix

170 – 180

11

Sequences

	Sequence		Length	Mass (Da)
	Q9H0F7-1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 42E37FC7886BF1F0	FASTA	186	21,097
	10 20 30 40 50 60 MGLLDRLSVL LGLKKKEVHV LCLGLDNSGK TTIINKLKPS NAQSQNILPT IGFSIEKFKS 70 80 90 100 110 120 SSLSFTVFDM SGQGRYRNLW EHYYKEGQAI IFVIDSSDRL RMVVAKEELD TLLNHPDIKH 130 140 150 160 170 180 RRIPILFFAN KMDLRDAVTS VKVSQLLCLE NIKDKPWHIC ASDAIKGEGL QEGVDWLQDQ IQTVKT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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.
[2]	"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.
[3]	"Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl Syndrome (BBS3)." Chiang A.P., Nishimura D., Searby C., Elbedour K., Carmi R., Ferguson A.L., Secrist J., Braun T., Casavant T., Stone E.M., Sheffield V.C. Am. J. Hum. Genet. 75:475-484(2004) [PubMed: 15258860] [Abstract] Cited for: INVOLVEMENT IN BBS3.
[4]	"Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome." Fan Y., Esmail M.A., Ansley S.J., Blacque O.E., Boroevich K., Ross A.J., Moore S.J., Badano J.L., May-Simera H., Compton D.S., Green J.S., Lewis R.A., van Haelst M.M., Parfrey P.S., Baillie D.L., Beales P.L., Katsanis N., Davidson W.S., Leroux M.R. Nat. Genet. 36:989-993(2004) [PubMed: 15314642] [Abstract] Cited for: VARIANTS BBS3 ARG-31; MET-31; ALA-169 AND TRP-170.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBLGenBankDDBJ

AL136815 mRNA. Translation: CAB66749.1.
BC024239 mRNA. Translation: AAH24239.1.

RefSeq

NP_115522.1.
NP_816931.1.

UniGene

Hs.373801

3D structure databases

PDBMSD

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2H57	X-ray	2.00	A/B/C	16-186	[»]

ModBase

Search...

Genome annotation databases

Ensembl

ENSG00000113966. Homo sapiens. [Contig view]

GeneID

84100.

KEGG

hsa:84100.

Organism-specific databases

H-InvDB

HIX0017935.

HGNC

HGNC:13210. ARL6.

MIM

209900. phenotype.
608845. gene.

Orphanet

110. Bardet-Biedl syndrome.
2235. Hypogonadism - retinitis pigmentosa.

PharmGKB

PA134931939.

GenAtlas

Search...

GeneCards

Search...

GeneLynx

Search...

Phylogenomic databases

HOGENOM

Q9H0F7.

HOVERGEN

Q9H0F7.

Gene expression databases

ArrayExpress

Q9H0F7.

CleanEx

HS_ARL6.

GermOnline

ENSG00000113966. Homo sapiens.

Family and domain databases

InterPro

IPR006688. ARF.
IPR006689. ARF/SAR.
IPR001806. Ras_trnsfrmng.
IPR005225. Small_GTP_bd.
[Graphical view]

PANTHER

PTHR11711. ARF/SAR. 1 hit.

Pfam

PF00025. Arf. 1 hit.
[Graphical view]

PRINTS

PR00449. RASTRNSFRMNG.
PR00328. SAR1GTPBP.

SMART

SM00177. ARF. 1 hit.
[Graphical view]

TIGRFAMs

TIGR00231. small_GTP. 1 hit.

PROSITE

PS01019. ARF. False negative.
[Graphical view]

ProDom

Q9H0F7.
[Graphical view] [Entries sharing at least one domain]

BLOCKS

Search...

Other Resources

SOURCE

Search...

ProtoNet

Search...

Entry information

Entry name

ARL6_HUMAN

Accession

Primary (citable) accession number: Q9H0F7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	March 1, 2001
Last modified:	July 22, 2008
This is version 65 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)