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Protein

Reticulophagy receptor FAM134B

Gene

FAM134B

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

Functioni

Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720).2 Publications

GO - Biological processi

  • negative regulation of neuron apoptotic process Source: GO_Central
  • reticulophagy Source: GO_Central
  • sensory perception of pain Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Autophagy

Names & Taxonomyi

Protein namesi
Recommended name:
Reticulophagy receptor FAM134BCurated
Gene namesi
Name:FAM134B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:25964. FAM134B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 59Cytoplasmic1 PublicationAdd BLAST59
Transmembranei60 – 80HelicalSequence analysisAdd BLAST21
Topological domaini81 – 95LumenalCuratedAdd BLAST15
Transmembranei96 – 116HelicalSequence analysisAdd BLAST21
Topological domaini117 – 118CytoplasmicCurated2
Transmembranei119 – 139HelicalSequence analysisAdd BLAST21
Topological domaini140 – 208LumenalCuratedAdd BLAST69
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Topological domaini230 – 497Cytoplasmic1 PublicationAdd BLAST268

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 2B (HSAN2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response.
See also OMIM:613115
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068477216G → R Found in a patient with HSAN2B; uncertain pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi453 – 458DDFELL → AAAAAA: Abolishes interaction with ATG8 family proteins. 1 Publication6

Keywords - Diseasei

Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi54463.
MalaCardsiFAM134B.
MIMi613115. phenotype.
OpenTargetsiENSG00000154153.
Orphaneti970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBiPA162386188.

Polymorphism and mutation databases

BioMutaiFAM134B.
DMDMi74733613.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002884661 – 497Reticulophagy receptor FAM134BAdd BLAST497

Proteomic databases

MaxQBiQ9H6L5.
PaxDbiQ9H6L5.
PeptideAtlasiQ9H6L5.
PRIDEiQ9H6L5.

PTM databases

iPTMnetiQ9H6L5.
PhosphoSitePlusiQ9H6L5.

Expressioni

Gene expression databases

BgeeiENSG00000154153.
CleanExiHS_FAM134B.
ExpressionAtlasiQ9H6L5. baseline and differential.
GenevisibleiQ9H6L5. HS.

Organism-specific databases

HPAiHPA026906.

Interactioni

Subunit structurei

Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, GABARAP, GABARAPL1 and GABARAPL2.1 Publication

Protein-protein interaction databases

BioGridi119969. 4 interactors.
DIPiDIP-61577N.
IntActiQ9H6L5. 2 interactors.
STRINGi9606.ENSP00000304642.

Structurei

3D structure databases

ProteinModelPortaliQ9H6L5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini84 – 233ReticulonPROSITE-ProRule annotationAdd BLAST150

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi453 – 458LIR motif1 Publication6

Domaini

The LIR motif interacts with ATG8 family proteins and is necessary to target the ER fragments to autophagosomes for subsequent lysosomal degradation.1 Publication
The reticulon domain provides capacity to bend the membrane and promotes ER scission.1 Publication

Sequence similaritiesi

Belongs to the FAM134 family.Curated
Contains 1 reticulon domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFP1. Eukaryota.
ENOG410XPQB. LUCA.
GeneTreeiENSGT00530000063240.
HOGENOMiHOG000050246.
HOVERGENiHBG071073.
InParanoidiQ9H6L5.
OMAiTRGAQLW.
OrthoDBiEOG091G08S3.
PhylomeDBiQ9H6L5.
TreeFamiTF329111.

Family and domain databases

InterProiIPR033358. FAM134B.
[Graphical view]
PANTHERiPTHR28659:SF3. PTHR28659:SF3. 1 hit.
PROSITEiPS50845. RETICULON. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H6L5-1) [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
MASPAPPEHA EEGCPAPAAE EQAPPSPPPP QASPAERQQQ EEEAQEAGAA
60 70 80 90 100
EGAGLQVEEA AGRAAAAVTW LLGEPVLWLG CRADELLSWK RPLRSLLGFV
110 120 130 140 150
AANLLFWFLA LTPWRVYHLI SVMILGRVIM QIIKDMVLSR TRGAQLWRSL
160 170 180 190 200
SESWEVINSK PDERPRLSHC IAESWMNFSI FLQEMSLFKQ QSPGKFCLLV
210 220 230 240 250
CSVCTFFTIL GSYIPGVILS YLLLLCAFLC PLFKCNDIGQ KIYSKIKSVL
260 270 280 290 300
LKLDFGIGEY INQKKRERSE ADKEKSHKDD SELDFSALCP KISLTVAAKE
310 320 330 340 350
LSVSDTDVSE VSWTDNGTFN LSEGYTPQTD TSDDLDRPSE EVFSRDLSDF
360 370 380 390 400
PSLENGMGTN DEDELSLGLP TELKRKKEQL DSGHRPSKET QSAAGLTLPL
410 420 430 440 450
NSDQTFHLMS NLAGDVITAA VTAAIKDQLE GVQQALSQAA PIPEEDTDTE
460 470 480 490
EGDDFELLDQ SELDQIESEL GLTQDQEAEA QQNKKSSGFL SNLLGGH
Length:497
Mass (Da):54,681
Last modified:March 1, 2001 - v1
Checksum:i4EEB84B941DBFCE5
GO
Isoform 2 (identifier: Q9H6L5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-141: Missing.
     142-152: RGAQLWRSLSE → MPEGEDFGPGK

Show »
Length:356
Mass (Da):39,317
Checksum:i2133E985B91539AC
GO

Sequence cautioni

The sequence AAH30517 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA90982 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15252 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti382S → G in BAB15252 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068477216G → R Found in a patient with HSAN2B; uncertain pathological significance. 1 Publication1
Natural variantiVAR_032422379Q → E.Corresponds to variant rs34432513dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0256851 – 141Missing in isoform 2. 2 PublicationsAdd BLAST141
Alternative sequenceiVSP_025686142 – 152RGAQLWRSLSE → MPEGEDFGPGK in isoform 2. 2 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000159 mRNA. Translation: BAA90982.1. Different initiation.
AK024920 mRNA. Translation: BAB15034.1.
AK025808 mRNA. Translation: BAB15241.1.
AK025832 mRNA. Translation: BAB15252.1. Different initiation.
BC030517 mRNA. Translation: AAH30517.1. Different initiation.
BC053326 mRNA. Translation: AAH53326.1.
BC073132 mRNA. Translation: AAH73132.1.
AL832438 mRNA. Translation: CAH10610.1.
CCDSiCCDS43304.1. [Q9H6L5-1]
CCDS43305.1. [Q9H6L5-2]
RefSeqiNP_001030022.1. NM_001034850.2. [Q9H6L5-1]
NP_061873.2. NM_019000.4. [Q9H6L5-2]
UniGeneiHs.481704.

Genome annotation databases

EnsembliENST00000306320; ENSP00000304642; ENSG00000154153. [Q9H6L5-1]
ENST00000399793; ENSP00000382691; ENSG00000154153. [Q9H6L5-2]
GeneIDi54463.
KEGGihsa:54463.
UCSCiuc003jfr.4. human. [Q9H6L5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000159 mRNA. Translation: BAA90982.1. Different initiation.
AK024920 mRNA. Translation: BAB15034.1.
AK025808 mRNA. Translation: BAB15241.1.
AK025832 mRNA. Translation: BAB15252.1. Different initiation.
BC030517 mRNA. Translation: AAH30517.1. Different initiation.
BC053326 mRNA. Translation: AAH53326.1.
BC073132 mRNA. Translation: AAH73132.1.
AL832438 mRNA. Translation: CAH10610.1.
CCDSiCCDS43304.1. [Q9H6L5-1]
CCDS43305.1. [Q9H6L5-2]
RefSeqiNP_001030022.1. NM_001034850.2. [Q9H6L5-1]
NP_061873.2. NM_019000.4. [Q9H6L5-2]
UniGeneiHs.481704.

3D structure databases

ProteinModelPortaliQ9H6L5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119969. 4 interactors.
DIPiDIP-61577N.
IntActiQ9H6L5. 2 interactors.
STRINGi9606.ENSP00000304642.

PTM databases

iPTMnetiQ9H6L5.
PhosphoSitePlusiQ9H6L5.

Polymorphism and mutation databases

BioMutaiFAM134B.
DMDMi74733613.

Proteomic databases

MaxQBiQ9H6L5.
PaxDbiQ9H6L5.
PeptideAtlasiQ9H6L5.
PRIDEiQ9H6L5.

Protocols and materials databases

DNASUi54463.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306320; ENSP00000304642; ENSG00000154153. [Q9H6L5-1]
ENST00000399793; ENSP00000382691; ENSG00000154153. [Q9H6L5-2]
GeneIDi54463.
KEGGihsa:54463.
UCSCiuc003jfr.4. human. [Q9H6L5-1]

Organism-specific databases

CTDi54463.
DisGeNETi54463.
GeneCardsiFAM134B.
GeneReviewsiFAM134B.
H-InvDBHIX0004766.
HGNCiHGNC:25964. FAM134B.
HPAiHPA026906.
MalaCardsiFAM134B.
MIMi613114. gene.
613115. phenotype.
neXtProtiNX_Q9H6L5.
OpenTargetsiENSG00000154153.
Orphaneti970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBiPA162386188.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFP1. Eukaryota.
ENOG410XPQB. LUCA.
GeneTreeiENSGT00530000063240.
HOGENOMiHOG000050246.
HOVERGENiHBG071073.
InParanoidiQ9H6L5.
OMAiTRGAQLW.
OrthoDBiEOG091G08S3.
PhylomeDBiQ9H6L5.
TreeFamiTF329111.

Miscellaneous databases

ChiTaRSiFAM134B. human.
GenomeRNAii54463.
PROiQ9H6L5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154153.
CleanExiHS_FAM134B.
ExpressionAtlasiQ9H6L5. baseline and differential.
GenevisibleiQ9H6L5. HS.

Family and domain databases

InterProiIPR033358. FAM134B.
[Graphical view]
PANTHERiPTHR28659:SF3. PTHR28659:SF3. 1 hit.
PROSITEiPS50845. RETICULON. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiF134B_HUMAN
AccessioniPrimary (citable) accession number: Q9H6L5
Secondary accession number(s): Q69YN8
, Q9H6K6, Q9H764, Q9NXM8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 111 of the entry and version 1 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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 one 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.