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Q15041

- AR6P1_HUMAN

UniProt

Q15041 - AR6P1_HUMAN

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Protein

ADP-ribosylation factor-like protein 6-interacting protein 1

Gene

ARL6IP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation.

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cotranslational protein targeting to membrane Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
ADP-ribosylation factor-like protein 6-interacting protein 1
Short name:
ARL-6-interacting protein 1
Short name:
Aip-1
Gene namesi
Name:ARL6IP1
Synonyms:ARL6IP, KIAA0069
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:697. ARL6IP1.

Subcellular locationi

Endomembrane system 1 Publication; Multi-pass membrane protein 1 Publication
Note: Predominantly localized to intracytoplasmic membranes.

GO - Cellular componenti

  1. cytosol Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProtKB
  4. Sec61 translocon complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 61, autosomal recessive (SPG61) [MIM:615685]: A complicated form of spastic paraplegia with polysensory and motor neuropathy. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi615685. phenotype.
Orphaneti401780. Autosomal recessive spastic paraplegia type 61.
PharmGKBiPA162376894.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 203203ADP-ribosylation factor-like protein 6-interacting protein 1PRO_0000064655Add
BLAST

Proteomic databases

MaxQBiQ15041.
PaxDbiQ15041.
PeptideAtlasiQ15041.
PRIDEiQ15041.

PTM databases

PhosphoSiteiQ15041.

Expressioni

Tissue specificityi

Expressed in all hematopoietic cell lineages, but the highest level of expression is found in early myeloid progenitor cells. Expressed in brain, bone marrow, thymus and lung. Expressed at low level in liver, kidney and spleen. Not detected in heart.1 Publication

Developmental stagei

Down-regulated during myeloid differentiation.

Gene expression databases

BgeeiQ15041.
CleanExiHS_ARL6IP1.
ExpressionAtlasiQ15041. baseline and differential.
GenevestigatoriQ15041.

Organism-specific databases

HPAiHPA045307.

Interactioni

Subunit structurei

Interacts with ARL6.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
FXR2P511163EBI-714543,EBI-740459

Protein-protein interaction databases

BioGridi116812. 11 interactions.
IntActiQ15041. 10 interactions.
MINTiMINT-1378119.
STRINGi9606.ENSP00000306788.

Structurei

3D structure databases

ProteinModelPortaliQ15041.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei42 – 6221HelicalSequence AnalysisAdd
BLAST
Transmembranei66 – 8621HelicalSequence AnalysisAdd
BLAST
Transmembranei134 – 15421HelicalSequence AnalysisAdd
BLAST
Transmembranei155 – 17521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the ARL6ip family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46676.
GeneTreeiENSGT00390000005707.
HOGENOMiHOG000034032.
HOVERGENiHBG050558.
InParanoidiQ15041.
OMAiWLAPKKL.
OrthoDBiEOG7CZK70.
PhylomeDBiQ15041.
TreeFamiTF105477.

Family and domain databases

InterProiIPR003388. Reticulon.
[Graphical view]
PfamiPF02453. Reticulon. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q15041-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAEGDNRSTN LLAAETASLE EQLQGWGEVM LMADKVLRWE RAWFPPAIMG
60 70 80 90 100
VVSLVFLIIY YLDPSVLSGV SCFVMFLCLA DYLVPILAPR IFGSNKWTTE
110 120 130 140 150
QQQRFHEICS NLVKTRRRAV GWWKRLFTLK EEKPKMYFMT MIVSLAAVAW
160 170 180 190 200
VGQQVHNLLL TYLIVTSLLL LPGLNQHGII LKYIGMAKRE INKLLKQKEK

KNE
Length:203
Mass (Da):23,363
Last modified:June 20, 2001 - v2
Checksum:iCE914D8FC9609FC6
GO

Sequence cautioni

The sequence BAA06683.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D31885 mRNA. Translation: BAA06683.1. Different initiation.
BC010281 mRNA. Translation: AAH10281.1.
CCDSiCCDS10572.1.
RefSeqiNP_055976.1. NM_015161.1.
UniGeneiHs.634882.

Genome annotation databases

EnsembliENST00000304414; ENSP00000306788; ENSG00000170540.
GeneIDi23204.
KEGGihsa:23204.
UCSCiuc002dfl.1. human.

Polymorphism databases

DMDMi14424435.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D31885 mRNA. Translation: BAA06683.1 . Different initiation.
BC010281 mRNA. Translation: AAH10281.1 .
CCDSi CCDS10572.1.
RefSeqi NP_055976.1. NM_015161.1.
UniGenei Hs.634882.

3D structure databases

ProteinModelPortali Q15041.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116812. 11 interactions.
IntActi Q15041. 10 interactions.
MINTi MINT-1378119.
STRINGi 9606.ENSP00000306788.

PTM databases

PhosphoSitei Q15041.

Polymorphism databases

DMDMi 14424435.

Proteomic databases

MaxQBi Q15041.
PaxDbi Q15041.
PeptideAtlasi Q15041.
PRIDEi Q15041.

Protocols and materials databases

DNASUi 23204.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000304414 ; ENSP00000306788 ; ENSG00000170540 .
GeneIDi 23204.
KEGGi hsa:23204.
UCSCi uc002dfl.1. human.

Organism-specific databases

CTDi 23204.
GeneCardsi GC16M018802.
HGNCi HGNC:697. ARL6IP1.
HPAi HPA045307.
MIMi 607669. gene.
615685. phenotype.
neXtProti NX_Q15041.
Orphaneti 401780. Autosomal recessive spastic paraplegia type 61.
PharmGKBi PA162376894.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46676.
GeneTreei ENSGT00390000005707.
HOGENOMi HOG000034032.
HOVERGENi HBG050558.
InParanoidi Q15041.
OMAi WLAPKKL.
OrthoDBi EOG7CZK70.
PhylomeDBi Q15041.
TreeFami TF105477.

Miscellaneous databases

GeneWikii ARL6IP1.
GenomeRNAii 23204.
NextBioi 44727.
PROi Q15041.
SOURCEi Search...

Gene expression databases

Bgeei Q15041.
CleanExi HS_ARL6IP1.
ExpressionAtlasi Q15041. baseline and differential.
Genevestigatori Q15041.

Family and domain databases

InterProi IPR003388. Reticulon.
[Graphical view ]
Pfami PF02453. Reticulon. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1."
    Nomura N., Nagase T., Miyajima N., Sazuka T., Tanaka A., Sato S., Seki N., Kawarabayasi Y., Ishikawa K., Tabata S.
    DNA Res. 1:223-229(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrow.
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  3. "Characterization, chromosomal localization, and expression during hematopoietic differentiation of the gene encoding Arl6ip, ADP-ribosylation-like factor-6 interacting protein (ARL6)."
    Pettersson M., Bessonova M., Gu H.F., Groop L.C., Jonsson J.I.
    Genomics 68:351-354(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  4. Cited for: INVOLVEMENT IN SPG61.

Entry informationi

Entry nameiAR6P1_HUMAN
AccessioniPrimary (citable) accession number: Q15041
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 20, 2001
Last modified: October 29, 2014
This is version 117 of the entry and version 2 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3