Q9H6L5 (F134B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM134B

Gene names

Name:

FAM134B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	497 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Required for long-term survival of nociceptive and autonomic ganglion neurons. Ref.4
Subcellular location	Golgi apparatus › cis-Golgi network membrane; Multi-pass membrane protein By similarity.
Involvement in disease	Hereditary sensory and autonomic neuropathy 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the FAM134 family.
Sequence caution	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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Neuropathy
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	sensory perception of pain Inferred from mutant phenotype Ref.4. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell cis-Golgi network Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H6L5-1)

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.

Isoform 2 (identifier: Q9H6L5-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 497	497	Protein FAM134B		PRO_0000288466
Regions
	Transmembrane	96 – 116	21	Helical; Potential
	Transmembrane	119 – 139	21	Helical; Potential
	Transmembrane	209 – 229	21	Helical; Potential
Amino acid modifications
	Modified residue	276	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 141	141	Missing in isoform 2.		VSP_025685
	Alternative sequence	142 – 152	11	RGAQLWRSLSE → MPEGEDFGPGK in isoform 2.		VSP_025686
	Natural variant	216	1	G → R Found in a patient with HSAN2B; uncertain pathological significance. Ref.5		VAR_068477
	Natural variant	379	1	Q → E. Corresponds to variant rs34432513 [ dbSNP | Ensembl ].		VAR_032422
Experimental info
	Sequence conflict	382	1	S → G in BAB15252. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 4EEB84B941DBFCE5	FASTA	497	54,681
	10 20 30 40 50 60 MASPAPPEHA EEGCPAPAAE EQAPPSPPPP QASPAERQQQ EEEAQEAGAA EGAGLQVEEA 70 80 90 100 110 120 AGRAAAAVTW LLGEPVLWLG CRADELLSWK RPLRSLLGFV AANLLFWFLA LTPWRVYHLI 130 140 150 160 170 180 SVMILGRVIM QIIKDMVLSR TRGAQLWRSL SESWEVINSK PDERPRLSHC IAESWMNFSI 190 200 210 220 230 240 FLQEMSLFKQ QSPGKFCLLV CSVCTFFTIL GSYIPGVILS YLLLLCAFLC PLFKCNDIGQ 250 260 270 280 290 300 KIYSKIKSVL LKLDFGIGEY INQKKRERSE ADKEKSHKDD SELDFSALCP KISLTVAAKE 310 320 330 340 350 360 LSVSDTDVSE VSWTDNGTFN LSEGYTPQTD TSDDLDRPSE EVFSRDLSDF PSLENGMGTN 370 380 390 400 410 420 DEDELSLGLP TELKRKKEQL DSGHRPSKET QSAAGLTLPL NSDQTFHLMS NLAGDVITAA 430 440 450 460 470 480 VTAAIKDQLE GVQQALSQAA PIPEEDTDTE EGDDFELLDQ SELDQIESEL GLTQDQEAEA 490 QQNKKSSGFL SNLLGGH
	Isoform 2 [UniParc]. Checksum: 2133E985B91539AC	FASTA	356	39,317
	10 20 30 40 50 60 MPEGEDFGPG KSWEVINSKP DERPRLSHCI AESWMNFSIF LQEMSLFKQQ SPGKFCLLVC 70 80 90 100 110 120 SVCTFFTILG SYIPGVILSY LLLLCAFLCP LFKCNDIGQK IYSKIKSVLL KLDFGIGEYI 130 140 150 160 170 180 NQKKRERSEA DKEKSHKDDS ELDFSALCPK ISLTVAAKEL SVSDTDVSEV SWTDNGTFNL 190 200 210 220 230 240 SEGYTPQTDT SDDLDRPSEE VFSRDLSDFP SLENGMGTND EDELSLGLPT ELKRKKEQLD 250 260 270 280 290 300 SGHRPSKETQ SAAGLTLPLN SDQTFHLMSN LAGDVITAAV TAAIKDQLEG VQQALSQAAP 310 320 330 340 350 IPEEDTDTEE GDDFELLDQS ELDQIESELG LTQDQEAEAQ QNKKSSGFLS NLLGGH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 80-497. Tissue: Melanoma.
[4]	"Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy." Kurth I., Pamminger T., Hennings J.C., Soehendra D., Huebner A.K., Rotthier A., Baets J., Senderek J., Topaloglu H., Farrell S.A., Nuernberg G., Nurnberg P., De Jonghe P., Gal A., Kaether C., Timmerman V., Huebner C.A. Nat. Genet. 41:1179-1181(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INVOLVEMENT IN HSAN2B.
[5]	"Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort." Davidson G.L., Murphy S.M., Polke J.M., Laura M., Salih M.A., Muntoni F., Blake J., Brandner S., Davies N., Horvath R., Price S., Donaghy M., Roberts M., Foulds N., Ramdharry G., Soler D., Lunn M.P., Manji H. , Davis M.B., Houlden H., Reilly M.M. J. Neurol. 259:1673-1685(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARG-216.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00465357. IPI00549844.
RefSeq	NP_001030022.1. NM_001034850.2. NP_061873.2. NM_019000.4.
UniGene	Hs.481704.
3D structure databases
ProteinModelPortal	Q9H6L5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H6L5. 1 interaction.
STRING	9606.ENSP00000304642.
PTM databases
PhosphoSite	Q9H6L5.
Polymorphism databases
DMDM	74733613.
Proteomic databases
PaxDb	Q9H6L5.
PRIDE	Q9H6L5.
Protocols and materials databases
DNASU	54463.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306320; ENSP00000304642; ENSG00000154153. ENST00000399793; ENSP00000382691; ENSG00000154153.
GeneID	54463.
KEGG	hsa:54463.
UCSC	uc003jfr.3. human. uc003jfs.3. human.
Organism-specific databases
CTD	54463.
GeneCards	GC05M016473.
H-InvDB	HIX0004766.
HGNC	HGNC:25964. FAM134B.
HPA	HPA026906.
MIM	613114. gene. 613115. phenotype.
neXtProt	NX_Q9H6L5.
Orphanet	970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKB	PA162386188.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG87326.
HOGENOM	HOG000050246.
HOVERGEN	HBG071073.
InParanoid	Q9H6L5.
OMA	WFLALTP.
Gene expression databases
Bgee	Q9H6L5.
CleanEx	HS_FAM134B.
Genevestigator	Q9H6L5.
Family and domain databases
InterPro	IPR003388. Reticulon. [Graphical view]
Pfam	PF02453. Reticulon. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54463.
NextBio	56725.
SOURCE	Search...

Entry information

Entry name

F134B_HUMAN

Accession

Primary (citable) accession number: Q9H6L5
Secondary accession number(s): Q69YN8 , Q9H6K6, Q9H764, Q9NXM8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.