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Protein

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

Gene

ARL6IP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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. 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 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:697. ARL6IP1.

Subcellular locationi

  1. Endomembrane system 1 Publication; Multi-pass membrane protein 1 Publication
  2. Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

  3. Note: Predominantly localized to intracytoplasmic membranes.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4141CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei42 – 6221HelicalSequence AnalysisAdd
BLAST
Topological domaini63 – 653LumenalSequence Analysis
Transmembranei66 – 8621HelicalSequence AnalysisAdd
BLAST
Topological domaini87 – 13347CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei134 – 17542HelicalSequence AnalysisAdd
BLAST
Topological domaini176 – 20328LumenalSequence AnalysisAdd
BLAST

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

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 61, autosomal recessive (SPG61)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:615685

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiARL6IP1.
DMDMi14424435.

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
E5KS603EBI-714543,EBI-10176959
ACSF2Q96CM84EBI-714543,EBI-2876502
C12orf10Q86UA33EBI-714543,EBI-10258793
COL4A3BPQ9Y5P43EBI-714543,EBI-739994
DIABLOQ9NR283EBI-714543,EBI-517508
FAM134CQ86VR23EBI-714543,EBI-10192441
FXR2P511163EBI-714543,EBI-740459
GAD2Q053293EBI-714543,EBI-9304251
GOLPH3Q9H4A63EBI-714543,EBI-2465479
GORASP2Q9H8Y83EBI-714543,EBI-739467
MTERF3Q96E293EBI-714543,EBI-7825321
NAPBQ9H1153EBI-714543,EBI-3921185
NDRG4Q9ULP03EBI-714543,EBI-10323810
PAM16Q9Y3D73EBI-714543,EBI-721147
PBX3Q5JS983EBI-714543,EBI-10244393
RAB33AQ140883EBI-714543,EBI-744685
RTN4Q9NQC33EBI-714543,EBI-715945
SENP2Q9HC623EBI-714543,EBI-714881
SHMT2P348973EBI-714543,EBI-352908
SNX1Q135964EBI-714543,EBI-2822329
SNX10Q8N5Z33EBI-714543,EBI-10266928
SNX10Q9Y5X03EBI-714543,EBI-10329478
SNX11Q9Y5W93EBI-714543,EBI-10329449
SNX12Q9UMY43EBI-714543,EBI-1752602
SNX15Q9NRS63EBI-714543,EBI-725924
SNX3O604933EBI-714543,EBI-727209
SNX4O952193EBI-714543,EBI-724909
SPG21Q9NZD83EBI-714543,EBI-742688
TFAMQ000593EBI-714543,EBI-1049924
TUFMP494113EBI-714543,EBI-359097
WIPI2Q9Y4P83EBI-714543,EBI-719396
ZFYVE21Q9BQ243EBI-714543,EBI-2849569

Protein-protein interaction databases

BioGridi116812. 43 interactions.
IntActiQ15041. 39 interactions.
MINTiMINT-1378119.
STRINGi9606.ENSP00000306788.

Structurei

3D structure databases

ProteinModelPortaliQ15041.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ARL6ip family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15041-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« 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
Isoform 2 (identifier: Q15041-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.

Note: No experimental confirmation available.

Show »
Length:174
Mass (Da):20,260
Checksum:iBB0332B543DA6899
GO
Isoform 3 (identifier: Q15041-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-156: Missing.

Note: No experimental confirmation available.

Show »
Length:151
Mass (Da):17,158
Checksum:i3E11F9A93A58A76F
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti110 – 1101S → I in BAH13527 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2929Missing in isoform 2. 1 PublicationVSP_057297Add
BLAST
Alternative sequencei105 – 15652Missing in isoform 3. 1 PublicationVSP_057298Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D31885 mRNA. Translation: BAA06683.1. Different initiation.
AK300869 mRNA. Translation: BAH13361.1.
AK301636 mRNA. Translation: BAH13527.1.
AC138811 Genomic DNA. No translation available.
BC010281 mRNA. Translation: AAH10281.1.
CCDSiCCDS10572.1. [Q15041-1]
RefSeqiNP_055976.1. NM_015161.1. [Q15041-1]
UniGeneiHs.634882.

Genome annotation databases

EnsembliENST00000304414; ENSP00000306788; ENSG00000170540. [Q15041-1]
ENST00000546206; ENSP00000440048; ENSG00000170540. [Q15041-2]
GeneIDi23204.
KEGGihsa:23204.
UCSCiuc002dfl.1. human. [Q15041-1]

Polymorphism and mutation databases

BioMutaiARL6IP1.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D31885 mRNA. Translation: BAA06683.1. Different initiation.
AK300869 mRNA. Translation: BAH13361.1.
AK301636 mRNA. Translation: BAH13527.1.
AC138811 Genomic DNA. No translation available.
BC010281 mRNA. Translation: AAH10281.1.
CCDSiCCDS10572.1. [Q15041-1]
RefSeqiNP_055976.1. NM_015161.1. [Q15041-1]
UniGeneiHs.634882.

3D structure databases

ProteinModelPortaliQ15041.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116812. 43 interactions.
IntActiQ15041. 39 interactions.
MINTiMINT-1378119.
STRINGi9606.ENSP00000306788.

PTM databases

PhosphoSiteiQ15041.

Polymorphism and mutation databases

BioMutaiARL6IP1.
DMDMi14424435.

Proteomic databases

MaxQBiQ15041.
PaxDbiQ15041.
PeptideAtlasiQ15041.
PRIDEiQ15041.

Protocols and materials databases

DNASUi23204.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304414; ENSP00000306788; ENSG00000170540. [Q15041-1]
ENST00000546206; ENSP00000440048; ENSG00000170540. [Q15041-2]
GeneIDi23204.
KEGGihsa:23204.
UCSCiuc002dfl.1. human. [Q15041-1]

Organism-specific databases

CTDi23204.
GeneCardsiGC16M018802.
HGNCiHGNC:697. ARL6IP1.
HPAiHPA045307.
MIMi607669. gene.
615685. phenotype.
neXtProtiNX_Q15041.
Orphaneti401780. Autosomal recessive spastic paraplegia type 61.
PharmGKBiPA162376894.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GeneWikiiARL6IP1.
GenomeRNAii23204.
NextBioi35480048.
PROiQ15041.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

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

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] (ISOFORM 1).
    Tissue: Bone marrow.
  2. "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] (ISOFORMS 2 AND 3).
    Tissue: Esophagus and Small intestine.
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  5. "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.
  6. "Determination of topological structure of ARL6ip1 in cells: identification of the essential binding region of ARL6ip1 for conophylline."
    Kuroda M., Funasaki S., Saitoh T., Sasazawa Y., Nishiyama S., Umezawa K., Simizu S.
    FEBS Lett. 587:3656-3660(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
  7. Cited for: INVOLVEMENT IN SPG61.

Entry informationi

Entry nameiAR6P1_HUMAN
AccessioniPrimary (citable) accession number: Q15041
Secondary accession number(s): B7Z6S5, B7Z791, F5GXP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 20, 2001
Last modified: April 29, 2015
This is version 121 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.