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Protein

HERV-H LTR-associating protein 3

Gene

HHLA3

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

Names & Taxonomyi

Protein namesi
Recommended name:
HERV-H LTR-associating protein 3
Alternative name(s):
Human endogenous retrovirus-H long terminal repeat-associating protein 3
Gene namesi
Name:HHLA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000197568.13
HGNCiHGNC:4906 HHLA3
MIMi604372 gene
neXtProtiNX_Q9XRX5

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000197568
PharmGKBiPA29279

Polymorphism and mutation databases

BioMutaiHHLA3
DMDMi334302897

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002497081 – 114HERV-H LTR-associating protein 3Add BLAST114

Proteomic databases

PaxDbiQ9XRX5
PRIDEiQ9XRX5
ProteomicsDBi85577
85578 [Q9XRX5-2]
85579 [Q9XRX5-3]

PTM databases

iPTMnetiQ9XRX5
PhosphoSitePlusiQ9XRX5

Expressioni

Tissue specificityi

Expressed in kidney and liver.1 Publication

Gene expression databases

BgeeiENSG00000197568 Expressed in 180 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_HHLA3
ExpressionAtlasiQ9XRX5 baseline and differential
GenevisibleiQ9XRX5 HS

Organism-specific databases

HPAiHPA031323

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NMIQ132878EBI-750554,EBI-372942

Protein-protein interaction databases

BioGridi116319, 1 interactor
IntActiQ9XRX5, 3 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9XRX5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410KCAI Eukaryota
ENOG4110P5X LUCA
GeneTreeiENSGT00410000028138
HOGENOMiHOG000185153
OMAiTSRWPEA
OrthoDBiEOG091G0VGI

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 4 (identifier: Q9XRX5-4) [UniParc]FASTAAdd to basket
Also known as: type 3

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
MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL
60 70 80 90 100
RAVCTKLANM YSTSTDCREH CRRGMKAKQL KAEAGRSCQR KGVPIQTPRE
110
HSWISCKKEF EANP
Length:114
Mass (Da):12,913
Last modified:May 31, 2011 - v3
Checksum:i354B823F63F2E229
GO
Isoform 2 (identifier: Q9XRX5-2) [UniParc]FASTAAdd to basket
Also known as: type 2

The sequence of this isoform differs from the canonical sequence as follows:
     55-114: TKLANMYSTS...SCKKEFEANP → LVNGKGSLSR...PEASEESQKK

Show »
Length:121
Mass (Da):13,511
Checksum:iFB8C05CB55AB644A
GO
Isoform 3 (identifier: Q9XRX5-3) [UniParc]FASTAAdd to basket
Also known as: type 1

The sequence of this isoform differs from the canonical sequence as follows:
     54-114: CTKLANMYST...SCKKEFEANP → LSTERGPYPDPKRAFLDLLQERI

Show »
Length:76
Mass (Da):8,644
Checksum:i0B69EE4E25EC5C9F
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PSC4E9PSC4_HUMAN
HERV-H LTR-associating protein 3
HHLA3
74Annotation score:

Sequence cautioni

The sequence AAD33288 differs from that shown. Reason: Frameshift at position 72.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti27R → G in AAD33288 (PubMed:10444326).Curated1
Sequence conflicti85G → W in AAD33288 (PubMed:10444326).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02054254 – 114CTKLA…FEANP → LSTERGPYPDPKRAFLDLLQ ERI in isoform 3. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_04109455 – 114TKLAN…FEANP → LVNGKGSLSRPQESILGSLA RKNLRRIHRVSLVMCVRPLS PSKAIISPVTCMYTSRWPEA SEESQKK in isoform 2. 1 PublicationAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF126163 mRNA Translation: AAD33288.1 Frameshift.
AF126164 mRNA Translation: AAD33289.1
AL158839 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06452.1
CH471059 Genomic DNA Translation: EAX06453.1
CH471059 Genomic DNA Translation: EAX06455.1
BC010922 mRNA Translation: AAH10922.1
BG773961 mRNA No translation available.
CCDSiCCDS30752.1 [Q9XRX5-2]
CCDS30753.1 [Q9XRX5-4]
CCDS649.1 [Q9XRX5-3]
RefSeqiNP_001026863.1, NM_001031693.2 [Q9XRX5-2]
NP_001031722.1, NM_001036645.1 [Q9XRX5-4]
NP_001031723.1, NM_001036646.1 [Q9XRX5-3]
UniGeneiHs.142245

Genome annotation databases

EnsembliENST00000359875; ENSP00000352938; ENSG00000197568 [Q9XRX5-4]
ENST00000361764; ENSP00000354815; ENSG00000197568 [Q9XRX5-3]
ENST00000370940; ENSP00000359978; ENSG00000197568 [Q9XRX5-2]
ENST00000463058; ENSP00000432048; ENSG00000197568 [Q9XRX5-3]
ENST00000531950; ENSP00000431678; ENSG00000197568 [Q9XRX5-4]
GeneIDi11147
KEGGihsa:11147
UCSCiuc001dfa.4 human [Q9XRX5-4]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiHHLA3_HUMAN
AccessioniPrimary (citable) accession number: Q9XRX5
Secondary accession number(s): D3DQ74
, Q5VZP2, Q96FH5, Q9XRX4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 31, 2011
Last modified: September 12, 2018
This is version 99 of the entry and version 3 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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