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Protein

Protein FAM117B

Gene

FAM117B

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

Functioni

Miscellaneous

ALS2CR13 is mapped in the genomic region covering the complete candidate region for Amyotrophic lateral sclerosis 2 (ALS2).

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM117B
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein
Gene namesi
Name:FAM117B
Synonyms:ALS2CR13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138439.11
HGNCiHGNC:14440 FAM117B
neXtProtiNX_Q6P1L5

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000138439
PharmGKBiPA164719514

Polymorphism and mutation databases

BioMutaiFAM117B
DMDMi158563965

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002995331 – 589Protein FAM117BAdd BLAST589

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10PhosphoserineCombined sources1
Modified residuei106PhosphoserineBy similarity1
Modified residuei210PhosphoserineCombined sources1
Modified residuei219PhosphoserineCombined sources1
Modified residuei220PhosphoserineCombined sources1
Modified residuei273PhosphoserineCombined sources1
Modified residuei345PhosphoserineBy similarity1
Modified residuei391PhosphoserineCombined sources1
Modified residuei449PhosphoserineBy similarity1
Modified residuei457PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6P1L5
MaxQBiQ6P1L5
PaxDbiQ6P1L5
PeptideAtlasiQ6P1L5
PRIDEiQ6P1L5
ProteomicsDBi66843
66844 [Q6P1L5-2]

PTM databases

iPTMnetiQ6P1L5
PhosphoSitePlusiQ6P1L5

Expressioni

Gene expression databases

BgeeiENSG00000138439 Expressed in 188 organ(s), highest expression level in neocortex
CleanExiHS_FAM117B
GenevisibleiQ6P1L5 HS

Organism-specific databases

HPAiHPA003229
HPA028746

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi127329, 25 interactors
IntActiQ6P1L5, 11 interactors
MINTiQ6P1L5

Structurei

3D structure databases

ProteinModelPortaliQ6P1L5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi15 – 99Gly-richAdd BLAST85
Compositional biasi137 – 145Poly-Pro9

Phylogenomic databases

eggNOGiENOG410IEAU Eukaryota
ENOG4111PY2 LUCA
GeneTreeiENSGT00390000005655
HOGENOMiHOG000252927
HOVERGENiHBG107860
InParanoidiQ6P1L5
OMAiAGHWPRD
OrthoDBiEOG091G0B78
PhylomeDBiQ6P1L5
TreeFamiTF333159

Family and domain databases

InterProiView protein in InterPro
IPR026641 FAM117B
IPR026642 Glcci1/FAM117
PANTHERiPTHR14972 PTHR14972, 1 hit
PTHR14972:SF6 PTHR14972:SF6, 1 hit
PfamiView protein in Pfam
PF15388 FAM117, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6P1L5-1) [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
MSQRVRRNGS PTPAGSLGGG AVATAGGPGS RLQPMRATVP FQLKQQQQQQ
60 70 80 90 100
HGSPTRSGGG GGGNNNGGCC GGASGPAGGG GGGGPRTASR STSPTRGGGN
110 120 130 140 150
AAARTSPTVA TQTGASATST RGTSPTRSAA PGARGSPPRP PPPPPLLGTV
160 170 180 190 200
SSPSSSPTHL WTGEVSAAPP PARVRHRRRS PEQSRSSPEK RSPSAPVCKA
210 220 230 240 250
GDKTRQPSSS PSSIIRRTSS LDTLAAPYLA GHWPRDSHGQ AAPCMRDKAT
260 270 280 290 300
QTESAWAEEY SEKKKGSHKR SASWGSTDQL KEIAKLRQQL QRSKHSSRHH
310 320 330 340 350
RDKERQSPFH GNHAAINQCQ APVPKSALIP VIPITKSTGS RFRNSVEGLN
360 370 380 390 400
QEIEIIIKET GEKEEQLIPQ DIPDGHRAPP PLVQRSSSTR SIDTQTPGGA
410 420 430 440 450
DRGSNNSSRS QSVSPTSFLT ISNEGSEESP CSADDLLVDP RDKENGNNSP
460 470 480 490 500
LPKYATSPKP NNSYMFKREP PEGCERVKVF EECSPKQLHE IPAFYCPDKN
510 520 530 540 550
KVNFIPKSGS AFCLVSILKP LLPTPDLTLK GSGHSLTVTT GMTTTLLQPI
560 570 580
AVASLSTNTE QDRVSRGTST VMPSASLLPP PEPIEEAEG
Length:589
Mass (Da):61,968
Last modified:September 11, 2007 - v2
Checksum:i61B47F16D3E06B14
GO
Isoform 2 (identifier: Q6P1L5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     283-289: IAKLRQQ → VRKMVLR
     290-589: Missing.

Note: No experimental confirmation available.
Show »
Length:289
Mass (Da):29,428
Checksum:i1B2F767E5BECCC1D
GO

Sequence cautioni

The sequence AAI06907 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI06908 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAX76518 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB69023 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence BAB69023 differs from that shown. Reason: Frameshift at position 150.Curated
The sequence BAC04700 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti168A → V in BAB69023 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027729283 – 289IAKLRQQ → VRKMVLR in isoform 2. 1 Publication7
Alternative sequenceiVSP_027730290 – 589Missing in isoform 2. 1 PublicationAdd BLAST300

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009960 Genomic DNA Translation: AAX76518.1 Sequence problems.
AC098831 Genomic DNA Translation: AAY24090.1
AB053315 mRNA Translation: BAB69023.1 Sequence problems.
AK096090 mRNA Translation: BAC04700.1 Different initiation.
BC065010 mRNA Translation: AAH65010.1
BC106906 mRNA Translation: AAI06907.1 Different initiation.
BC106907 mRNA Translation: AAI06908.1 Different initiation.
CCDSiCCDS33362.2 [Q6P1L5-1]
RefSeqiNP_775782.2, NM_173511.3 [Q6P1L5-1]
UniGeneiHs.471130

Genome annotation databases

EnsembliENST00000392238; ENSP00000376071; ENSG00000138439 [Q6P1L5-1]
GeneIDi150864
KEGGihsa:150864
UCSCiuc010zhx.3 human [Q6P1L5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009960 Genomic DNA Translation: AAX76518.1 Sequence problems.
AC098831 Genomic DNA Translation: AAY24090.1
AB053315 mRNA Translation: BAB69023.1 Sequence problems.
AK096090 mRNA Translation: BAC04700.1 Different initiation.
BC065010 mRNA Translation: AAH65010.1
BC106906 mRNA Translation: AAI06907.1 Different initiation.
BC106907 mRNA Translation: AAI06908.1 Different initiation.
CCDSiCCDS33362.2 [Q6P1L5-1]
RefSeqiNP_775782.2, NM_173511.3 [Q6P1L5-1]
UniGeneiHs.471130

3D structure databases

ProteinModelPortaliQ6P1L5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127329, 25 interactors
IntActiQ6P1L5, 11 interactors
MINTiQ6P1L5

PTM databases

iPTMnetiQ6P1L5
PhosphoSitePlusiQ6P1L5

Polymorphism and mutation databases

BioMutaiFAM117B
DMDMi158563965

Proteomic databases

EPDiQ6P1L5
MaxQBiQ6P1L5
PaxDbiQ6P1L5
PeptideAtlasiQ6P1L5
PRIDEiQ6P1L5
ProteomicsDBi66843
66844 [Q6P1L5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392238; ENSP00000376071; ENSG00000138439 [Q6P1L5-1]
GeneIDi150864
KEGGihsa:150864
UCSCiuc010zhx.3 human [Q6P1L5-1]

Organism-specific databases

CTDi150864
EuPathDBiHostDB:ENSG00000138439.11
GeneCardsiFAM117B
H-InvDBiHIX0002751
HGNCiHGNC:14440 FAM117B
HPAiHPA003229
HPA028746
neXtProtiNX_Q6P1L5
OpenTargetsiENSG00000138439
PharmGKBiPA164719514
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEAU Eukaryota
ENOG4111PY2 LUCA
GeneTreeiENSGT00390000005655
HOGENOMiHOG000252927
HOVERGENiHBG107860
InParanoidiQ6P1L5
OMAiAGHWPRD
OrthoDBiEOG091G0B78
PhylomeDBiQ6P1L5
TreeFamiTF333159

Miscellaneous databases

ChiTaRSiFAM117B human
GenomeRNAii150864
PROiPR:Q6P1L5

Gene expression databases

BgeeiENSG00000138439 Expressed in 188 organ(s), highest expression level in neocortex
CleanExiHS_FAM117B
GenevisibleiQ6P1L5 HS

Family and domain databases

InterProiView protein in InterPro
IPR026641 FAM117B
IPR026642 Glcci1/FAM117
PANTHERiPTHR14972 PTHR14972, 1 hit
PTHR14972:SF6 PTHR14972:SF6, 1 hit
PfamiView protein in Pfam
PF15388 FAM117, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiF117B_HUMAN
AccessioniPrimary (citable) accession number: Q6P1L5
Secondary accession number(s): Q53QZ5
, Q585T9, Q8N8W1, Q96Q34
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: September 12, 2018
This is version 105 of the entry and version 2 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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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