Human Gene ARL6IP1 (uc002dfl.1) Description and Page Index
  Description: Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA.
RefSeq Summary (NM_015161): This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015].
Transcript (Including UTRs)
   Position: hg19 chr16:18,802,991-18,812,857 Size: 9,867 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr16:18,804,574-18,812,788 Size: 8,215 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:18,802,991-18,812,857)mRNA (may differ from genome)Protein (203 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: AR6P1_HUMAN
DESCRIPTION: RecName: Full=ADP-ribosylation factor-like protein 6-interacting protein 1; Short=ARL-6-interacting protein 1; Short=Aip-1;
FUNCTION: May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation.
SUBUNIT: Interacts with ARL6 (By similarity).
INTERACTION: P51116:FXR2; NbExp=3; IntAct=EBI-714543, EBI-740459;
SUBCELLULAR LOCATION: Endomembrane system; Multi-pass membrane protein. Note=Predominantly localized to intracytoplasmic membranes.
TISSUE SPECIFICITY: 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.
DEVELOPMENTAL STAGE: Down-regulated during myeloid differentiation.
SIMILARITY: Belongs to the ARL6ip family.
SEQUENCE CAUTION: Sequence=BAA06683.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: ARL6IP1
Diseases sorted by gene-association score: spastic paraplegia 61, autosomal recessive* (1328), spastic paraplegia 61* (530)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 227.79 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 3585.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.5069-0.355 Picture PostScript Text
3' UTR -404.571583-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003388 - Reticulon

ModBase Predicted Comparative 3D Structure on Q15041
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0002038 positive regulation of L-glutamate transport
GO:0006613 cotranslational protein targeting to membrane
GO:0006915 apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0071787 endoplasmic reticulum tubular network assembly
GO:1990809 endoplasmic reticulum tubular network membrane organization

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005784 Sec61 translocon complex
GO:0005789 endoplasmic reticulum membrane
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  LF207870 - JP 2014500723-A/15373: Polycomb-Associated Non-Coding RNAs.
D31885 - Homo sapiens KIAA0069 mRNA.
BC010281 - Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1, mRNA (cDNA clone MGC:5360 IMAGE:3048642), complete cds.
BX648446 - Homo sapiens mRNA; cDNA DKFZp686H13259 (from clone DKFZp686H13259).
LF369691 - JP 2014500723-A/177194: Polycomb-Associated Non-Coding RNAs.
JD296538 - Sequence 277562 from Patent EP1572962.
LF369692 - JP 2014500723-A/177195: Polycomb-Associated Non-Coding RNAs.
JD291355 - Sequence 272379 from Patent EP1572962.
JD431271 - Sequence 412295 from Patent EP1572962.
JD076990 - Sequence 58014 from Patent EP1572962.
LF369693 - JP 2014500723-A/177196: Polycomb-Associated Non-Coding RNAs.
JD296977 - Sequence 278001 from Patent EP1572962.
AK300825 - Homo sapiens cDNA FLJ51781 complete cds, highly similar to ARL-6-interacting protein 1.
JD287745 - Sequence 268769 from Patent EP1572962.
LF369694 - JP 2014500723-A/177197: Polycomb-Associated Non-Coding RNAs.
JD047954 - Sequence 28978 from Patent EP1572962.
JD338876 - Sequence 319900 from Patent EP1572962.
JD052953 - Sequence 33977 from Patent EP1572962.
AK308744 - Homo sapiens cDNA, FLJ98785.
AK300869 - Homo sapiens cDNA FLJ50699 complete cds, moderately similar to ARL-6-interacting protein 1.
JD019501 - Sequence 525 from Patent EP1572962.
JD034583 - Sequence 15607 from Patent EP1572962.
AK307315 - Homo sapiens cDNA, FLJ97263.
AK308092 - Homo sapiens cDNA, FLJ98040.
AK291137 - Homo sapiens cDNA FLJ76399 complete cds, highly similar to Homo sapiens ADP-ribosylation factor-like 6 interacting protein (ARL6IP), mRNA.
AK301636 - Homo sapiens cDNA FLJ50719 complete cds, highly similar to ARL-6-interacting protein 1.
JD110579 - Sequence 91603 from Patent EP1572962.
JD549944 - Sequence 530968 from Patent EP1572962.
JD273974 - Sequence 254998 from Patent EP1572962.
JD327926 - Sequence 308950 from Patent EP1572962.
HQ448378 - Synthetic construct Homo sapiens clone IMAGE:100071802; CCSB002374_01 ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1) gene, encodes complete protein.
AB383734 - Synthetic construct DNA, clone: pF1KSDA0069, Homo sapiens ARL6IP1 gene for ARL-6-interacting protein 1, complete cds, without stop codon, in Flexi system.
CU679669 - Synthetic construct Homo sapiens gateway clone IMAGE:100020234 5' read ARL6IP1 mRNA.
LF369696 - JP 2014500723-A/177199: Polycomb-Associated Non-Coding RNAs.
LF369697 - JP 2014500723-A/177200: Polycomb-Associated Non-Coding RNAs.
MA605268 - JP 2018138019-A/177194: Polycomb-Associated Non-Coding RNAs.
MA605269 - JP 2018138019-A/177195: Polycomb-Associated Non-Coding RNAs.
MA605270 - JP 2018138019-A/177196: Polycomb-Associated Non-Coding RNAs.
MA605271 - JP 2018138019-A/177197: Polycomb-Associated Non-Coding RNAs.
MA605273 - JP 2018138019-A/177199: Polycomb-Associated Non-Coding RNAs.
MA605274 - JP 2018138019-A/177200: Polycomb-Associated Non-Coding RNAs.
MA443447 - JP 2018138019-A/15373: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AR6P1_HUMAN, ARL6IP, KIAA0069, NM_015161, NP_055976, Q15041
UCSC ID: uc002dfl.1
RefSeq Accession: NM_015161
Protein: Q15041 (aka AR6P1_HUMAN or AR61_HUMAN)
CCDS: CCDS10572.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015161.1
exon count: 6CDS single in 3' UTR: no RNA size: 2280
ORF size: 612CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1424.00frame shift in genome: no % Coverage: 99.30
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.