KEGG T01001: 57679

Homo sapiens (human): 57679

Entry

57679 CDS T01001

Gene name

ALS2, ALS2CR6, ALSJ, IAHSP, PLSJ

Definition

amyotrophic lateral sclerosis 2 (juvenile)

Orthology

K04575

amyotrophic lateral sclerosis 2 protein

Organism

hsa Homo sapiens (human)

Pathway

hsa05014

Amyotrophic lateral sclerosis (ALS)

Disease

H00058	Amyotrophic lateral sclerosis (ALS)
H00970	Juvenile primary lateral sclerosis
H01172	Infantile ascending hereditary spastic paralysis (IAHSP)

Class

Human Diseases; Neurodegenerative diseases; Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014]

SSDB

Motif

Pfam:

RCC1 RCC1_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

2q33.1

AA seq 396 aa
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDG
EVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSA
GQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQL
GLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLI
TMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQS
VATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVRED
SEHGEKPVPSQVPAQFYKIKVCLELNCMGFSLETLK

NT seq 1191 nt +upstreamnt +downstreamnt
atggactcaaagaagagaagctcaacagaggcagaaggatccaaggaaagaggcctggtc
catatctggcaggcaggatcctttcccataacaccagagagattgccaggctggggagga
aagactgttttgcaggcagccctcggagtgaaacatggagttcttctgactgaagatggt
gaggtctacagctttgggactcttccctggagaagtggaccagtggagatttgtccaagt
agccccattctagaaaatgccctggttgggcaatatgttattactgtggcaacaggaagc
ttccatagtggagcagtgacagacaatggtgtcgcgtacatgtggggagagaattctgct
ggccagtgtgcagtagccaaccagcagtatgtgccggaaccaaatcctgtcagcattgct
gattctgaggccagccctttgttagcagtcaggattttacagttggcgtgtggcgaggag
cacactctggcattgtcaataagcagagagatttgggcatggggtaccggttgtcagttg
ggtctcattaccactgccttcccagtgacaaagccgcaaaaggtagaacatcttgctggg
cgagtggtgcttcaagttgcctgtggtgctttccacagcttagcccttgtacaatgcctc
ccttcccaggatctgaagccagtcccagaacgatgcaaccagtgcagccagctcttgatt
actatgactgacaaagaagaccatgtgattatatcagacagtcattgttgcccattaggt
gtgacactgacagaatctcaggcagaaaaccatgccagcactgctctcagcccctccact
gaaacccttgacaggcaggaagaagtatttgagaacactcttgtagcaaatgatcagtct
gttgctactgaactgaatgcagtaagtgctcagatcacaagcagcgatgccatgtcctct
caacaaaatgtcatgggaacaactgaaatttcctctgccagaaacataccatcataccct
gacacccaagcagtcaatgaatacctacggaaactgtcagatcattcagtaagagaggac
tcagagcatggtgaaaagccagtgccatctcaggtacctgctcaattttataaaataaaa
gtgtgtctagagttgaactgtatgggcttttctttagaaactttaaaatga

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (10)   
   UniGene (2)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   RefSeq(pep) (2)   
DNA sequence (28)   
   RefSeq(nuc) (2)   
   GenBank (13)   
   EMBL (13)   
Protein domain (2)   
   Pfam (2)   
All databases (63)   

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