HNRNPH1
entrez
3187
canonical
uniprot
P31943
canonical
ensembl
ENSG00000169045
resolver
ensembl
ENSG00000284254
resolver
ensp
ENSP00000327539
resolver
ensp
ENSP00000349168
resolver
ensp
ENSP00000377082
resolver
ensp
ENSP00000397797
resolver
ensp
ENSP00000421695
resolver
ensp
ENSP00000424087
resolver
ensp
ENSP00000425343
resolver
ensp
ENSP00000426275
resolver
ensp
ENSP00000426518
resolver
ensp
ENSP00000429270
resolver
ensp
ENSP00000429661
resolver
ensp
ENSP00000492076
resolver
ensp
ENSP00000516644
resolver
ensp
ENSP00000518308
resolver
ensp
ENSP00000518309
resolver
ensp
ENSP00000518311
resolver
ensp
ENSP00000518312
resolver
ensp
ENSP00000518316
resolver
ensp
ENSP00000518317
resolver
ensp
ENSP00000518318
resolver
ensp
ENSP00000518319
resolver
ensp
ENSP00000518321
resolver
ensp
ENSP00000518322
resolver
ensp
ENSP00000527869
resolver
ensp
ENSP00000527870
resolver
ensp
ENSP00000527871
resolver
ensp
ENSP00000527872
resolver
ensp
ENSP00000527873
resolver
ensp
ENSP00000527877
resolver
ensp
ENSP00000527878
resolver
ensp
ENSP00000593889
resolver
ensp
ENSP00000593891
resolver
ensp
ENSP00000593892
resolver
ensp
ENSP00000593893
resolver
ensp
ENSP00000593894
resolver
ensp
ENSP00000593896
resolver
ensp
ENSP00000593897
resolver
ensp
ENSP00000593898
resolver
ensp
ENSP00000593899
resolver
ensp
ENSP00000593902
resolver
ensp
ENSP00000593904
resolver
ensp
ENSP00000593905
resolver
ensp
ENSP00000617192
resolver
ensp
ENSP00000617193
resolver
ensp
ENSP00000617194
resolver
ensp
ENSP00000617198
resolver
ensp
ENSP00000617201
resolver
ensp
ENSP00000617203
resolver
ensp
ENSP00000617204
resolver
ensp
ENSP00000673386
resolver
ensp
ENSP00000673388
resolver
ensp
ENSP00000673389
resolver
ensp
ENSP00000717716
resolver
ensp
ENSP00000717722
resolver
ensp
ENSP00000717728
resolver
ensp
ENSP00000753717
resolver
enst
ENST00000329433
resolver
enst
ENST00000356731
resolver
enst
ENST00000393432
resolver
enst
ENST00000442819
resolver
enst
ENST00000505811
resolver
enst
ENST00000510411
resolver
enst
ENST00000513225
resolver
enst
ENST00000515158
resolver
enst
ENST00000515714
resolver
enst
ENST00000521116
resolver
enst
ENST00000523921
resolver
enst
ENST00000638505
resolver
enst
ENST00000706924
resolver
enst
ENST00000710500
resolver
enst
ENST00000710502
resolver
enst
ENST00000710505
resolver
enst
ENST00000710506
resolver
enst
ENST00000710510
resolver
enst
ENST00000710511
resolver
enst
ENST00000710512
resolver
enst
ENST00000710513
resolver
enst
ENST00000710515
resolver
enst
ENST00000710516
resolver
enst
ENST00000857811
resolver
enst
ENST00000857813
resolver
enst
ENST00000857819
resolver
enst
ENST00000923830
resolver
enst
ENST00000923832
resolver
enst
ENST00000923833
resolver
enst
ENST00000923834
resolver
enst
ENST00000923835
resolver
enst
ENST00000923839
resolver
enst
ENST00000923843
resolver
enst
ENST00000923845
resolver
enst
ENST00000947133
resolver
enst
ENST00000947134
resolver
enst
ENST00000947135
resolver
enst
ENST00000947139
resolver
genesymbol
HNRNPH1
resolver
genesymbol_syn
HNRPH
resolver
genesymbol_syn
HNRPH1
resolver
hgnc
HGNC:5041
resolver
uniprot
A0A384MEJ3
resolver
uniprot
A0A9L9PY23
resolver
uniprot
A0AAG2UWX3
resolver
uniprot
B3KW86
resolver
uniprot
D3DWQ2
resolver
uniprot
E9PCY7
resolver
uniprot
G8JLB6
resolver
uniprot
H0YBD7
resolver
uniprot
Q6IBM4
resolver
uniprot_entry
A0A384MEJ3_HUMAN
resolver
uniprot_entry
A0A9L9PY23_HUMAN
resolver
uniprot_entry
A0AAG2UWX3_HUMAN
resolver
uniprot_entry
E9PCY7_HUMAN
resolver
uniprot_entry
G8JLB6_HUMAN
resolver
uniprot_entry
H0YBD7_HUMAN
resolver
uniprot_entry
HNRH1_HUMAN
resolver
uniprot_sec
B3KW86
resolver
uniprot_sec
D3DWQ2
resolver
uniprot_sec
Q6IBM4
resolver
amino_acid_sequence
MMLGTEGGEGFVVKVRGLPWSCSADEVQRFFSDCKIQNGAQGIRFIYTREGRPSGEAFVELESEDEVKLALKKDRETMGHRYVEVFKSNNVEMDWVLKHTGPNSPDTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGITLPVDFQGRSTGEAFVQFASQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGYGGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTGEADVEFATHEDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGYGGGYGGQSSMSGYDQVLQENSSDFQSNIA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) [MIM:620083]: An autosomal dominant disorder characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic dysmorphic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging. {ECO:0000269|PubMed:29938792, ECO:0000269|PubMed:32335897}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG). {ECO:0000269|PubMed:11003644, ECO:0000269|PubMed:16946708}.
uniprot
proteins
mass_dalton
49229
uniprot
proteins
pubmed
11003644
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16946708
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17289661
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29938792
uniprot
proteins
pubmed
32335897
uniprot
proteins
pubmed
7499401
uniprot
proteins
pubmed
7512260
uniprot
proteins
sequence_length
449
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
uniprot
proteins