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Q9H6L5

- F134B_HUMAN

UniProt

Q9H6L5 - F134B_HUMAN

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Protein

Protein FAM134B

Gene

FAM134B

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

Functioni

Required for long-term survival of nociceptive and autonomic ganglion neurons.1 Publication

GO - Biological processi

  1. sensory perception of pain Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM134B
Gene namesi
Name:FAM134B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:25964. FAM134B.

Subcellular locationi

GO - Cellular componenti

  1. cis-Golgi network Source: UniProtKB
  2. Golgi apparatus Source: UniProtKB-KW
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 2B (HSAN2B) [MIM:613115]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161G → R Found in a patient with HSAN2B; uncertain pathological significance. 1 Publication
VAR_068477

Keywords - Diseasei

Neuropathy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 497497Protein FAM134BPRO_0000288466Add
BLAST

Proteomic databases

MaxQBiQ9H6L5.
PaxDbiQ9H6L5.
PRIDEiQ9H6L5.

PTM databases

PhosphoSiteiQ9H6L5.

Expressioni

Gene expression databases

BgeeiQ9H6L5.
CleanExiHS_FAM134B.
GenevestigatoriQ9H6L5.

Organism-specific databases

HPAiHPA026906.

Interactioni

Protein-protein interaction databases

BioGridi119969. 3 interactions.
IntActiQ9H6L5. 1 interaction.
STRINGi9606.ENSP00000304642.

Structurei

3D structure databases

ProteinModelPortaliQ9H6L5.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei96 – 11621HelicalSequence AnalysisAdd
BLAST
Transmembranei119 – 13921HelicalSequence AnalysisAdd
BLAST
Transmembranei209 – 22921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM134 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG87326.
GeneTreeiENSGT00530000063240.
HOGENOMiHOG000050246.
HOVERGENiHBG071073.
InParanoidiQ9H6L5.
OMAiAESWMNF.
PhylomeDBiQ9H6L5.
TreeFamiTF329111.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 AAH30517.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAA90982.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB15252.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti382 – 3821S → G in BAB15252. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161G → R Found in a patient with HSAN2B; uncertain pathological significance. 1 Publication
VAR_068477
Natural varianti379 – 3791Q → E.
Corresponds to variant rs34432513 [ dbSNP | Ensembl ].
VAR_032422

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 141141Missing in isoform 2. 2 PublicationsVSP_025685Add
BLAST
Alternative sequencei142 – 15211RGAQLWRSLSE → MPEGEDFGPGK in isoform 2. 2 PublicationsVSP_025686Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q9H6L5-2]
uc003jfs.3. human. [Q9H6L5-1]

Polymorphism databases

DMDMi74733613.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS43304.1. [Q9H6L5-1 ]
CCDS43305.1. [Q9H6L5-2 ]
RefSeqi NP_001030022.1. NM_001034850.2. [Q9H6L5-1 ]
NP_061873.2. NM_019000.4. [Q9H6L5-2 ]
UniGenei Hs.481704.

3D structure databases

ProteinModelPortali Q9H6L5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119969. 3 interactions.
IntActi Q9H6L5. 1 interaction.
STRINGi 9606.ENSP00000304642.

PTM databases

PhosphoSitei Q9H6L5.

Polymorphism databases

DMDMi 74733613.

Proteomic databases

MaxQBi Q9H6L5.
PaxDbi Q9H6L5.
PRIDEi Q9H6L5.

Protocols and materials databases

DNASUi 54463.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306320 ; ENSP00000304642 ; ENSG00000154153 . [Q9H6L5-1 ]
ENST00000399793 ; ENSP00000382691 ; ENSG00000154153 . [Q9H6L5-2 ]
GeneIDi 54463.
KEGGi hsa:54463.
UCSCi uc003jfr.3. human. [Q9H6L5-2 ]
uc003jfs.3. human. [Q9H6L5-1 ]

Organism-specific databases

CTDi 54463.
GeneCardsi GC05M016473.
GeneReviewsi FAM134B.
H-InvDB HIX0004766.
HGNCi HGNC:25964. FAM134B.
HPAi HPA026906.
MIMi 613114. gene.
613115. phenotype.
neXtProti NX_Q9H6L5.
Orphaneti 970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBi PA162386188.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG87326.
GeneTreei ENSGT00530000063240.
HOGENOMi HOG000050246.
HOVERGENi HBG071073.
InParanoidi Q9H6L5.
OMAi AESWMNF.
PhylomeDBi Q9H6L5.
TreeFami TF329111.

Miscellaneous databases

GenomeRNAii 54463.
NextBioi 56725.
PROi Q9H6L5.
SOURCEi Search...

Gene expression databases

Bgeei Q9H6L5.
CleanExi HS_FAM134B.
Genevestigatori Q9H6L5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "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 1 AND 2).
    Tissue: Colon.
  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] (ISOFORMS 1 AND 2).
    Tissue: Colon and Lung.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 80-497.
    Tissue: Melanoma.
  4. Cited for: FUNCTION, INVOLVEMENT IN HSAN2B.
  5. Cited for: VARIANT ARG-216.

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: October 29, 2014
This is version 93 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

External Data

Dasty 3